Human immunodeficiency virus (HIV) II infection category B1
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
Hepatoblastoma Caused By Somatic Mutation
Conventional (Clear Cell) Renal Cell Carcinoma
Squamous cell carcinoma of the head and neck
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Slow acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant
Oestrogen receptor positive breast cancer
Malignant neoplasm of colon and/or rectum
Precursor Cell Lymphoblastic Leukemia Lymphoma
Primary differentiated carcinoma of thyroid gland
Whooping cough due to unspecified organism
Low density lipoprotein cholesterol measurement
Liver and Intrahepatic Biliary Tract Carcinoma
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
Dementia due to Alzheimer's disease (disorder)
Secondary malignant neoplasm of colon and/or rectum
malignant neoplasm of large intestine stage IIa
Triglyceride storage disease with ichthyosis
Hereditary Motor and Sensory-Neuropathy Type II
Decreased motor nerve conduction velocity
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Hereditary Diffuse Leukoencephalopathy with Spheroids
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
Generalized glycogen storage disease of infants
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
Gamma aminobutyric acid transaminase deficiency
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Adverse effects, not elsewhere classified
Pathological accumulation of air in tissues
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neuroendocrine cell hyperplasia of infancy
Congenital Deficiency of Pulmonary Surfactant Protein B
Ground-glass opacification on pulmonary HRCT
Refractory anemia with ringed sideroblasts
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
Refractory anemia, without ringed sideroblasts, without excess blasts
Influenza due to Influenza A virus subtype H1N1
Progressive cone dystrophy (without rod involvement)
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
Recurrent Childhood Acute Lymphoblastic Leukemia
Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Philadelphia chromosome positive chronic myelogenous leukemia
Philadelphia chromosome negative chronic myelogenous leukemia
Childhood T Acute Lymphoblastic Leukemia
Childhood B Acute Lymphoblastic Leukemia
Red cell distribution width determination
Chronic myelogenous leukemia, BCR/ABL positive
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
RDW - Red blood cell distribution width result
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Hereditary Leiomyomatosis and Renal Cell Cancer
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Malformations of Cortical Development, Group II
Acute lymphoblastic leukemia with lymphomatous features
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Childhood Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Klinefelter's syndrome - male with more than two X chromosomes
Activated Partial Thromboplastin Time measurement
Hemolytic disease of fetus OR newborn due to ABO immunization
Severe hereditary factor VIII deficiency disease
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Nasal Type Extranodal NK/T-Cell Lymphoma
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Malignant neoplasm of gastrointestinal tract
Well Differentiated Pancreatic Endocrine Tumor
ST segment elevation myocardial infarction
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
Platelet Component Distribution Width Measurement
Soluble Interleukin 6 Receptor Measurement
Necrotizing enterocolitis in fetus OR newborn
Cholestasis, progressive familial intrahepatic 1
Tibial aplasia and ectrodactyly syndrome
Cervical intraepithelial neoplasia grade 1
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
Long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Medium-chain acyl-coenzyme A dehydrogenase deficiency
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
Erythrocyte Mean Corpuscular Hemoglobin Test
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Increased circulating free fatty acid level
Deficiency of acetyl-CoA acyltransferase (disorder)
Clear-cell metastatic renal cell carcinoma
Delirium, Dementia, Amnestic, Cognitive Disorders
Hangover from any Alcohol or Other Drugs substance
MRSA - Methicillin resistant Staphylococcus aureus infection
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Behavioural and psychiatric symptoms of dementia
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Hyperferritinemia, hereditary, with congenital cataracts
M5b Acute differentiated monocytic leukemia
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
Decreased light- and dark-adapted electroretinogram amplitude
Abnormality of nervous system morphology
Secondary malignant neoplasm of lymph node
Cervical intraepithelial neoplasia grade 2
X-linked recessive nephrolithiasis with renal failure
Metastasis from malignant tumor of prostate
Chronic kidney disease mineral and bone disorder
Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Positive
HMN (Hereditary Motor Neuropathy) Proximal Type I
Eichsfeld type congenital muscular dystrophy
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
X-linked myopathy with excessive autophagy
Centrally nucleated skeletal muscle fibers
Increased variability in muscle fiber diameter
Nemaline Myopathy 3, With Intranuclear Rods
Respiratory insufficiency due to muscle weakness
Fatiguable weakness of proximal limb muscles
Fatigable weakness of distal limb muscles
Fatigable weakness of respiratory muscles
Type 1 fibers relatively smaller than type 2 fibers
Congenital anomaly of cerebrovascular system
Aortic aneurysm without mention of rupture NOS
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Patent ductus arteriosus - persisting type
Familial thoracic aortic aneurysm and aortic dissection
Monoclonal Gammopathy of Undetermined Significance
Hereditary Sensory and Autonomic Neuropathies
Autosomal Recessive Polycystic Kidney Disease
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Muscular dystrophy congenital, merosin negative
Anaplastic large cell lymphoma, ALK negative
Megacystis microcolon intestinal hypoperistalsis syndrome
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
Resistance to Insulin-Like Growth Factor I
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
medullary carcinoma with lymphoid stroma of breast
Autosomal dominant focal segmental glomerulosclerosis
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
Experimental Organism Basal Cell Carcinoma
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Primary cholangiocarcinoma of intrahepatic biliary tract
Hearing loss begins with loss of high frequencies
Flexion contracture of proximal interphalangeal joint
Visceral Neuropathy, Familial, Autosomal Dominant
Aplasia/Hypoplasia of the abdominal wall musculature
Abnormality of cardiovascular system morphology
Congenital malformation of genital organs
Maladaptive behavior associated with physical illness
Secondary malignant neoplasm of peritoneum
Nephrotic syndrome, focal and segmental glomerular lesions
Carcinoma of urinary bladder, superficial
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
Nephrotic syndrome with focal and segmental hyalinosis
Nephrotic syndrome with focal and segmental sclerosis
Nephrotic syndrome with focal glomerulonephritis
Steroid resistant nephrotic syndrome of childhood
Autosomal dominant tubulointerstitial kidney disease
Platelet mean volume determination (procedure)
Anaplastic Large Cell Lymphoma, ALK-Positive
Progressive cervical vertebral spine fusion
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Aplasia/Hypoplasia of the phalanges of the hallux
Abnormality of the first metatarsal bone
Pancreatic Intraductal Papillary Mucinous Neoplasm
Isomerism of atrial appendages with asplenia or polysplenia
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
Adult Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor
Right to left cardiovascular shunt (finding)
Primary Cutaneous Anaplastic Large Cell Lymphoma
Adult Primary Cutaneous Anaplastic Large Cell Lymphoma
Childhood Anaplastic Large Cell Lymphoma
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Telangiectasia, Hereditary Hemorrhagic, Type 1
Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the corpus callosum
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
Pleural effusion associated with pulmonary infection
Maturity onset diabetes mellitus in young
Severe combined immunodeficiency due to adenosine deaminase deficiency
Recurrent upper respiratory tract infection
Structural Clinical Interview for DSM-III
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Abnormality of pelvic girdle bone morphology
Reduced red cell adenosine deaminase activity
Thrombocytopenia due to platelet alloimmunization
Squamous cell carcinoma of the hypopharynx
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Idiopathic normal pressure hydrocephalus (INPH)
Multifocal cerebral white matter abnormalities
Undetectable light- and dark-adapted electroretinogram
Atrophy/Degeneration involving the caudate nucleus
Severe chronic obstructive pulmonary disease
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Dyskinesia, Familial, with Facial Myokymia
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
Low Grade Squamous Intraepithelial Neoplasia
Adverse Event Associated with Cardiac Arrhythmia
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Congenital atresia of extrahepatic bile duct
Polyglandular Type I Autoimmune Syndrome
Advanced Cutaneous Melanoma of the Extremity
Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of other specified parts of mouth
malignant neoplasm of lateral wall of oropharynx
Malignant neoplasm of posterior wall of oropharynx
Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of lateral floor of mouth
Lymphoproliferative Disorder of the Skin
Flat Ductal Epithelial Atypia of the Breast
Primary malignant neoplasm of lateral wall of oropharynx
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Morphological abnormality of the central nervous system
Heart failure with preserved ejection fraction [HFpEF]
Primary immunoglobulin A nephropathy (disorder)
Posterior Circulation Transient Ischemic Attack
Carotid Circulation Transient Ischemic Attack
Transient Ischemic Attack, Vertebrobasilar Circulation
Embolic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery
Transient Ischemic Attack, Anterior Circulation
Sleep Initiation and Maintenance Disorders
Surgical incision wound (morphologic abnormality)
Acute encephalopathy with biphasic seizures and late reduced diffusion
Combined pulmonary fibrosis and emphysema
Hereditary Breast and Ovarian Cancer Syndrome
Autosomal Dominant Juvenile Parkinson Disease
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
HPV positive oropharyngeal squamous cell carcinoma
Ceroid lipofuscinosis, neuronal 1, infantile
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Cytogenetically normal acute myeloid leukemia
Non-Metastatic Childhood Soft Tissue Sarcoma
Stage IV Esophageal Squamous Cell Carcinoma
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
Generalized Epilepsy with Febrile Seizures Plus
Hereditary Sensory Autonomic Neuropathy, Type 1
Humoral hypercalcemia of malignancy (disorder)
Nephrogenic Syndrome of Inappropriate Antidiuresis
Primary pigmented nodular adrenocortical disease
Primary Pigmented Nodular Adrenal Dysplasia
Attention deficit hyperactivity disorder, combined type
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
EEG with irregular generalized spike and wave complexes
Congenital Generalized Lipodystrophy Type 2
Hypointensity of cerebral white matter on MRI
Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 2
Malignant neoplasm of connective and other soft tissue, site unspecified
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome
Hepatitis B Virus-Related Hepatocellular Carcinoma
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
Stage IS Testicular Cancer AJCC v6 and v7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Peroxisome Biogenesis Disorder, Complementation Group G
Irritable bowel syndrome characterized by constipation
Osteoarthrosis, localized, not specified whether primary or secondary
Degeneration of lumbar intervertebral disc
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F
Septicaemia due to gram-negative organism, unspecified
Chronic obstructive asthma (with obstructive pulmonary disease)
Bacteremia caused by Gram-negative bacteria
Chronic rhinosinusitis with nasal polyps
ST-segment elevation myocardial infarction (STEMI)
Human immunodeficiency virus II infection
Neuropathy due to human immunodeficiency virus
Congenital bilateral aplasia of vas deferens
Pediatric human immunodeficiency virus infection
Immune reconstitution inflammatory syndrome [IRIS]
Behavioral and psychological symptoms of dementia
Pulmonary Atresia with Intact Ventricular Septum
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Reduced number of intrahepatic bile ducts
Pre-eclampsia added to pre-existing hypertension
Hypocalciuric hypercalcemia, familial, type 1
Non-obstructive reflux-associated chronic pyelonephritis (disorder)
Dissecting aneurysm of the thoracic aorta
Acute ST segment elevation myocardial infarction (disorder)
Non ST segment elevation myocardial infarction
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Chronic kidney disease due to hypertension
Heart failure with reduced ejection fraction [HFrEF]
Non-ST-segment elevation myocardial infarction (NSTEMI)
Nonarteritic anterior ischemic optic neuropathy (NAION)
Extranodal marginal zone B-cell lymphoma
MENTAL RETARDATION, X-LINKED 88 (disorder)
Shortening of all distal phalanges of the fingers
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Congenital absence of germinal epithelium of testes
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Female external genitalia in individual with 46,XY karyotype
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
46, XX Testicular Disorders of Sex Development
Elevated circulating follicle stimulating hormone level
Absence of secondary sex characteristics
Elevated circulating luteinizing hormone level
Congenital disorder of glycosylation type 1A
Amino Acid Metabolism, Inherited Disorders
Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hyperintensity of cerebral white matter on MRI
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Malignant melanoma of skin of upper limb
Malignant melanoma of skin of lower limb
Inflammatory disease of the central nervous system
Xeroderma Pigmentosum, Complementation Group D
Chronic respiratory disease due to Mycoplasma gallisepticum
Psychogenic Inversion of Circadian Rhythm
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hypertrophic disorder of skin, unspecified
Fibrous skin tumor of tuberous sclerosis
Early infantile epileptic encephalopathy with suppression bursts
Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of breast
TNF receptor-associated periodic fever syndrome (TRAPS)
Mediastinal (Thymic) Large B-Cell Lymphoma
Sertoli-Leydig cell tumor of intermediate differentiation
Activated B-cell type diffuse large B-cell lymphoma
Salivary Gland Epithelial Myoepithelial Carcinoma
Chronic Lymphoproliferative Disorder of NK-Cells
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Abnormal subcutaneous fat tissue distribution
Megalencephaly cutis marmorata telangiectatica congenita
Leukemia, Natural Killer Cell Large Granular Lymphocytic
Spindle Cell Oncocytoma of the Adenohypophysis
Peripheral neuropathy due to and following chemotherapy
MiT family translocation renal cell carcinoma
Metastatic human epidermal growth factor 2 positive carcinoma of breast
Peroxisome Biogenesis Disorder, Complementation Group H
Acute exacerbation of chronic obstructive airways disease
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Secondary malignant neoplasm of adrenal gland
Ketoacidosis due to acute alcohol intoxication
Danish type familial amyloid cardiomyopathy
Secondary malignant neoplasm of pancreas
Headache associated with sexual activity
Secondary malignant neoplasm of vertebral column
Malignant Female Reproductive System Neoplasm
Metastatic Head and Neck Squamous Cell Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma
Heart failure with normal ejection fraction
Recurrent lower respiratory tract infection
Nephrotic Syndrome - Frequently Relapsing
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Metastatic Malignant Neoplasm in the Viscera
Progression of non-small cell lung cancer
Impaired vibration sensation in the lower limbs
Contiguous ABCD1 DXS1357E deletion syndrome
Malignant neoplasm of cardioesophageal junction of stomach
SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO
ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
Renal dysplasia and retinal aplasia (disorder)
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm
Adenoid cystic carcinoma of salivary gland
Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of spinal cord
Malignant Central Nervous System Neoplasm
Anaplastic large cell lymphoma T- and null-cell types refractory
Blastic plasmacytoid dendritic cell neoplasm
Adult Systemic Anaplastic Large Cell Lymphoma
Lung Large Cell Neuroendocrine Carcinoma
Urinary Bladder Inflammatory Myofibroblastic Tumor
Prostate Stromal Proliferation of Uncertain Malignant Potential
Metastatic Malignant Neoplasm to the Leptomeninges
Cutaneous Fibrous Histiocytoma, Epithelioid Variant
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
Polyposis Of Gastric Fundus Without Polyposis Coli
Severe cutaneous adverse reactions (SMQ)
Granulocyte Colony Stimulating Factor Measurement
Follicular Variant Thyroid Gland Papillary Carcinoma
Anaplastic lymphoma kinase positive anaplastic large cell lymphoma
Breast implant-associated anaplastic large cell lymphoma
Advanced Lung Non-Squamous Non-Small Cell Carcinoma
Refractory Lung Non-Small Cell Carcinoma
Metastatic Lung Non-Small Cell Carcinoma
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Other specified forms of pleural effusion, except tuberculous
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
Skin dimple over apex of long bone angulation
Arthrogryposis, renal dysfunction, and cholestasis 1
Low density lipoprotein receptor mutation
Amelogenesis imperfecta local hypoplastic form
Acute bacterial skin and skin structure infection
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM
Female infertility associated with anovulation
Ventricular Fibrillation, Paroxysmal Familial, 1
Sex Chromosome Disorders of Sex Development
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Abnormality of the periventricular white matter
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
Autoimmune Diseases of the Nervous System
Malignant hyperpyrexia due to anesthesia
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Urinary incontinence of non-organic origin
Fatigable weakness of swallowing muscles
Hantavirus infection in conditions classified elsewhere and of unspecified site
Amyotrophic Lateral Sclerosis, Guam Form
Pulmonary arterial hypertension associated with portal hypertension
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
Human anaplasmosis due to Anaplasma phagocytophilum
Ankle brachial pressure index (observable entity)
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
Abnormality of the hypothalamus-pituitary axis
Increased mean corpuscular hemoglobin concentration
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Parkinson Disease 6, Autosomal Recessive Early-Onset
continuous electrocardiogram sinus bradycardia (finding)
Abnormality of prenatal development or birth
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progeroid Syndrome, Congenital, Petty Type
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
Cytochrome C oxidase-negative muscle fibers
Subsarcolemmal accumulations of abnormally shaped mitochondria
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
Malignant tumor of lesser curve of stomach
Malignant tumor of greater curve of stomach
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
Exacerbation of idiopathic pulmonary fibrosis
Myelodysplastic Syndrome with Isolated del(5q)
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
Adult Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma
Malignant tumor of extrahepatic bile duct
Congenital hypertrophy of retinal pigment epithelium
Neoplasm of uncertain or unknown behavior of stomach
Gastro-esophageal reflux disease with esophagitis
Primary malignant neoplasm of ovary and other uterine adnexa
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
Desmoid Tumor Caused By Somatic Mutation
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Prognostic Stage IV Breast Cancer AJCC v8
Non ST segment elevation acute coronary syndrome
Autoimmune Syndrome Type II, Polyglandular
Decreased circulating parathyroid hormone level
Polyglandular Type III Autoimmune Syndrome
Polyglandular Deficiency Syndrome, Persian-Jewish Type
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
Autoimmune polyendocrinopathy syndrome, type 1
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma
Stage IV Cutaneous Melanoma AJCC v6 and v7
Nodular Sclerosis Classical Hodgkin Lymphoma
Neurofibromatosis, Type 3, mixed central and peripheral
Cholesteryl Ester Transfer Protein Deficiency
APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 PHENOTYPE
Abnormal internal carotid artery morphology
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
Abnormality of nervous system physiology
Behavioral variant of frontotemporal dementia
Diarrhoea predominant irritable bowel syndrome
Degenerative Diseases, Central Nervous System
Malignant neoplasm of other specified sites of pancreas
Familial Amyloid Neuropathy, Portuguese Type
Familial Alzheimer's disease of early onset
Tetralogy of Fallot with pulmonary atresia
Imbalance of constituents of food intake
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
Mesial temporal lobe epilepsy with hippocampal sclerosis
Charcot-Marie-Tooth Disease, Type Ia (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Deposits immunoreactive to beta-amyloid protein
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
Primary angiitis of the central nervous system
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
Disruptive, Impulse Control, and Conduct Disorders
Fukuyama Type Congenital Muscular Dystrophy
Cardiomyopathy associated with another disorder
Childhood Ataxia with Central Nervous System Hypomyelinization
Adenocarcinoma of the prostate metastatic
Acute myeloid leukemia, minimal differentiation
Systemic onset juvenile chronic arthritis
Preterm Premature Rupture of Fetal Membranes
Decreased proportion of CD4-positive T cells
Autoimmune Lymphoproliferative Syndrome Type 2B
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
Severe Fever with Thrombocytopenia Syndrome
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
Autoimmune Lymphoproliferative Syndrome, Type IB
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
Demyelinating disease of central nervous system
Continuous spike and waves during slow sleep
Diffuse palmoplantar keratoderma, Bothnian type
Nervous System, Organic Arsenic Poisoning
Hereditary liability to pressure palsies
Spinocerebellar Ataxia Type 6 (disorder)
Atypical Small Acinar Proliferation of the Prostate Gland
High Grade Cervical Intraepithelial Neoplasia
Intraductal Proliferative Lesion of the Breast
Solid pseudopapillary tumour of the pancreas
Cervical high grade squamous intraepithelial lesion
Juvenile and adolescent idiopathic scoliosis
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Cervical Intraepithelial Neoplasia Grade 2/3
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
Aplasia/Hypoplasia of the fallopian tube
X-linked hereditary motor and sensory neuropathy
Idiopathic arterial calcification of infancy
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Medial calcification of medium-sized arteries
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Papillary renal cell carcinoma, sporadic
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
Pulmonary Fibrosis - from Asbestos Exposure
Growth Hormone-Producing Pituitary Gland Neoplasm
Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Bochdalek
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
Primary cutaneous marginal zone B-cell lymphoma
Primary Cutaneous Follicle Center Lymphoma
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
Congenital Fibrosis of the Extraocular Muscles
Fibrosis Of Extraocular Muscles, Congenital, 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Dilated cardiomyopathy secondary to metabolic disorder
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
X-linked agammaglobulinemia with growth hormone deficiency
Diffuse large B-cell lymphoma refractory
Refractory Childhood Acute Lymphoblastic Leukemia
Refractory Adult Acute Lymphoblastic Leukemia
Refractory cytopenia with multilineage dysplasia
Orthostatic hypotension due to autonomic dysfunction
Punctate periventricular T2 hyperintense foci
Chondrodysplasia punctata, X-linked dominant type
Secondary malignant neoplasm of soft tissues
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Catch - Finding of sensory dimension of pain
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
Supratentorial Embryonal Tumor, Not Otherwise Specified
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder)
Carbamoyl-Phosphate Synthase I Deficiency Disease
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency
Aplasia/Hypoplasia involving the central nervous system
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Congenital disorder of glycosylation type 1B
Autosomal dominant compelling helio ophthalmic outburst syndrome
Clear cell sarcoma, of tendons and aponeuroses
Childhood Clear Cell Sarcoma of Soft Parts
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Neoplasm of uncertain or unknown behavior of bladder
Malignant lymphoma - lymphocytic, intermediate differentiation
Hereditary non-polyposis colorectal cancer syndrome
Neuropathy ataxia and retinis pigmentosa
Hereditary Non-Polyposis Colon Cancer Type 2
Colorectal cancer, hereditary nonpolyposis, type 1
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
Abnormality of bone marrow cell morphology
Abnormality of the gastrointestinal tract
Abnormality of female external genitalia
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
blood phenylalanine measurement by Guthrie microbiologic assay
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
X-linked non progressive cerebellar ataxia
Mean corpuscular hemoglobin concentration determination
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
Superficial spreading malignant melanoma of skin
Folinic acid responsive seizure syndrome
Decreased activity of mitochondrial ATP synthase complex
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
Cutis Laxa, Autosomal Recessive, Type IIA
Abnormal isoelectric focusing of serum transferrin
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
Distal renal tubular acidosis co-occurrent with sensorineural deafness
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis
Spinal Muscular Atrophy, Distal, X-Linked 3
Abnormal peripheral nervous system morphology
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
Mixed demyelinating and axonal polyneuropathy
Congenital malformation syndromes associated with short stature
Cone-shaped epiphyses of the phalanges of the hand
Infiltrating duct carcinoma of female breast
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
Mental retardation Smith Fineman Myers type
Abnormality of blood and blood-forming tissues
Mental Retardation with Spastic Paraplegia
Glioneuronal Tumor with Neuropil-Like Islands
Hydrops fetalis due to alpha thalassemia
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
Enlarged epiphyses of the distal phalanges of the hand
Dermatological manifestations of systemic disorders
Impairment of activities of daily living
Abnormal pulmonary valve cusp morphology
Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Autosomal Dominant Spastic Paraplegia
Lymphedema, microcephaly and chorioretinopathy syndrome
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
Decreased sensory nerve conduction velocity
Decreased number of peripheral myelinated nerve fibers
Spastic paraplegia 10, autosomal dominant
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Mild hereditary factor VIII deficiency disease
Non-ST elevation (NSTEMI) myocardial infarction
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST
Arthrogryposis with renal dysfunction and cholestasis syndrome
Progressive post hemorrhagic ventricular dilatation
Abnormality of somatosensory evoked potentials
Childhood Acute Promyelocytic Leukemia with PML-RARA
Hyperdiploid B Acute Lymphoblastic Leukemia
Other specified senile psychotic conditions
AIDS-related small noncleaved cell lymphoma
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Maple Syrup Urine Disease, Thiamine Responsive
Sleep Apnea, Mixed Central and Obstructive
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Infection by larvae of Trichinella spiralis
Respiratory failure requiring assisted ventilation
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
Elevated plasma branched chain amino acids
Increased level of hippuric acid in urine
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
Compression fracture of vertebral column
Laryngeal squamous cell carcinoma recurrent
Centrocytic (mantle cell) lymphoma (Kiel classification)
T-cell/histiocyte rich large B-cell lymphoma
Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma
Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma
Intermediate Grade Ductal Breast Carcinoma In Situ
Low Grade Ductal Breast Carcinoma In Situ
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Ovarian Small Cell Carcinoma, Hypercalcemic Type
Adult Diffuse Small Cleaved Cell Lymphoma
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
Pleomorphic Variant Mantle Cell Lymphoma
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
Core binding factor acute myeloid leukemia
Functional abnormality of the gastrointestinal tract
Stage 0 Cutaneous Melanoma AJCC v6 and v7
Renal Pelvis and Ureter Urothelial Carcinoma
Velamentous insertion of umbilical cord (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Low Grade Prostatic Intraepithelial Neoplasia
Follicular non-Hodgkin's lymphoma, large cell
Breast Fibrocystic Change, Proliferative Type
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Treatment related acute myeloid leukaemia
carcinoma of the renal pelvis and ureter
High Grade B-Cell Non-Hodgkin's Lymphoma
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
Diffuse large B-cell lymphoma of central nervous system
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
High Grade B-Cell Lymphoma, Not Otherwise Specified
Vascular endothelial growth factor overexpression
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements
Anatomic Stage III Breast Cancer AJCC v8
Prognostic Stage III Breast Cancer AJCC v8
Advanced Laryngeal Squamous Cell Carcinoma
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
Hodgkin lymphoma, nodular lymphocyte predominance
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
B-cell lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma
Recurrent Adult Acute Lymphoblastic Leukemia
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
Chromosome 22q11.2 Deletion Syndrome, Distal
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
Necrotizing encephalopathy, infantile subacute, of Leigh
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
Decreased mitochondrial complex III activity in liver tissue
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Amyotrophic Lateral Sclerosis 4, Juvenile
Non-Alzheimer's dementia (e.g., Lewy body dementia, vascular or multi-infarct dementia; mixed dementia; frontotemporal dementia such as Pick's disease; and dementia related to stroke, Parkinson's or Creutzfeldt-Jakob diseases)
Hyperplasia of pancreatic islet beta cell
Adult attention deficit hyperactivity disorder
Chronic Prostatitis with Chronic Pelvic Pain Syndrome
Dysfunction of lateral corticospinal tracts
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Spinal muscular atrophy with lower extremity predominance
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
Cortical, lamellar, or zonular nonsenile cataract
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
Obstructive sleep apnea hypopnea syndrome
Cone-shaped epiphyses fused within their metaphyses
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
Irritable bowel syndrome with constipation
Indifference to Pain, Congenital, Autosomal Recessive
Maturity-onset diabetes of the young, type 11
Facial telangiectasia in butterfly midface distribution
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Osteogenesis imperfecta type III (disorder)
Glycogen storage disease due to acid maltase deficiency, infantile onset
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Prieto X-linked mental retardation syndrome
Isolated hypoplasia of the right ventricle
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
continuous electrocardiogram - paroxysmal supraventricular tachycardia
Triangular shaped middle phalanx of the 2nd finger
Triangular shaped middle phalanx of the 5th finger
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
Other congenital malformations of anterior segment of eye
Familial Nonmedullary Thyroid Gland Carcinoma
Congenital anomaly of anterior segment of eye
Benign neoplasm of central nervous system
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15
Chondrodysplasia, acromesomelic, with genital anomalies
Aplasia/Hypoplasia involving the metacarpal bones
Fibular hypoplasia and complex brachydactyly
Bilateral single transverse palmar creases
Aplasia of the proximal phalanges of the hand
Symphalangism affecting the phalanges of the hand
Complete duplication of distal phalanx of the thumb
Aplasia of the middle phalanges of the toes
Aplasia/Hypoplasia of the 1st metacarpal
Stippling of the epiphysis of the distal phalanx of the thumb
Pulmonary arterial hypertension induced by drug
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
Recurrent Head and Neck Squamous Cell Carcinoma
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
Uterine tumor resembling ovarian sex cord tumor
Ovarian Serous Surface Papillary Adenocarcinoma
Primary serous papillary carcinoma of peritoneum
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
Prognostic Stage I Breast Cancer AJCC v8
Prognostic Stage II Breast Cancer AJCC v8
Hereditary site-specific ovarian cancer syndrome
Stage IV Thyroid Gland Papillary Carcinoma AJCC v7
Mixed follicular and papillary thyroid carcinoma
Desmoplastic spindle and epithelioid cell melanocytic nevus of skin
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Adenocarcinoma of the gastroesophageal junction
Glomus Tumor of Uncertain Malignant Potential
Metastatic Malignant Peripheral Nerve Sheath Tumor
Tongue thrusting when swallowing, abnormal persistence beyond early childhood
Noonan syndrome-like disorder with loose anagen hair
Increased anterioposterior diameter of thorax
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
Familial Hypertrophic Cardiomyopathy Type 4
Rosette-forming glioneuronal tumor of the fourth ventricle
Noonan-Like Syndrome With Loose Anagen Hair
Childhood Thyroid Gland Papillary Carcinoma
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Stage II Cutaneous Melanoma AJCC v6 and v7
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
Esophageal atresia with or without tracheoesophageal fistula
Familial Atypical Mole Melanoma Syndrome
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
Chromosomal breakage induced by crosslinking agents
hereditary breast/ovarian cancer - BRCA1
Moderately differentiated squamous cell carcinoma
Cystic Adenomatoid Malformation of Lung, Congenital
Hyper-IgM Immunodeficiency Syndrome, Type 1
Autosomal agammaglobulinemia with absent B-cells
Chromosomal mosaicism due to mitotic instability
Fulminant Hepatic Failure with Cerebral Edema
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
Hereditary C1 esterase inhibitor deficiency - deficient factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Complement Component 4, Partial Deficiency Of
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
Hereditary angioedema with normal C1 inhibitor
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
Hypersensitivity reaction mediated by immune complex
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
Autosomal dominant neovascular inflammatory vitreoretinopathy
Disseminated infection caused by Neisseria gonorrhoeae
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
Total Anomalous Pulmonary Venous Return 1
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
Amyotrophic Lateral Sclerosis With Dementia
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
RETINAL DYSTROPHY WITH MACULAR STAPHYLOMA
Transient neonatal renal tubular acidosis
Peroxisome Biogenesis Disorder, Complementation Group C
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Clear cell papillary renal cell carcinoma
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
Benign paroxysmal torticollis of infancy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Complex partial seizure with impairment of consciousness
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
Abnormal light- and dark-adapted electroretinogram
Night Blindness, Congenital Stationary, Type 1A
Night blindness, congenital stationary, type 1
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
Cone-rod synaptic disorder, congenital nonprogressive
Complete congenital stationary night blindness
Incomplete congenital stationary night blindness
Thyrotoxicosis with toxic single thyroid nodule
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Tooth Agenesis, Selective, With Orofacial Cleft
Hypodontia Oligodontia with Orofacial Cleft
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Malignant hyperthermia susceptibility type 5
Periodic paralysis with transient compartment-like syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
Optic Atrophy Spastic Paraplegia Syndrome
Generalized tonic-clonic seizures on awakening
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
Carnitine palmitoyl transferase 2 deficiency
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8
Stage II Nasopharyngeal Carcinoma AJCC v7
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
Adult onset autosomal dominant leukodystrophy
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
cutaneous squamous cell carcinoma of the head and neck
Congenital secretory diarrhea, sodium type (disorder)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
Autosomal Recessive Hereditary Spastic Paraplegia
Weakness due to upper motor neuron dysfunction
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
Contractures of the joints of the lower limbs
Autosomal recessive limb girdle muscular dystrophy type 2A
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
Symmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy
Squamous cell carcinoma of buccal mucosa
Enteropathogenic Escherichia coli gastrointestinal tract infection
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
T-Cell Large Granular Lymphocyte Leukemia
Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified
Autoimmune Lymphoproliferative Syndrome, Type IIA
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES
Elevated circulating parathyroid hormone level
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Peroxisome Biogenesis Disorder, Complementation Group D
Loss of subcutaneous adipose tissue in limbs
Lipodystrophy, Congenital Generalized, Type 3
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
Abnormality of skeletal muscle fiber size
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
Abnormal muscle fiber protein expression
Percussion-induced rapid rolling muscle contractions
Rippling muscle disease with myasthenia gravis
Isolated asymptomatic elevation of creatine phosphokinase
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Abnormal facility in opposing the shoulders
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
recurrent childhood acute myeloid leukemia
Refractory anemia with excess blasts in transformation (clinical)
Acute myeloid leukemia with recurrent genetic abnormality
Acute myeloid leukemia with multilineage dysplasia
Therapy-related acute myeloid leukemia and myelodysplastic syndrome
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
Platelet Disorder, Familial, with Associated Myeloid Malignancy
Acute lymphoblastic leukemia, in relapse
Acute myeloblastic leukemia with t(8;21)
Myelodysplastic Syndrome Acute Myeloid Leukemia
Acute myeloid leukemia, t(8;21) (q22;q22)
Myeloid leukemia associated with Down Syndrome
Transformation to acute myeloid leukaemia
Acute myelomonocytic leukemia with abnormal eosinophils
Other specified disorders of adrenal gland
Hypocortisolism secondary to another disorder
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Preterm premature rupture of membranes (disorder)
Hemangioma, Cavernous, Central Nervous System
Cavernous Angioma, Central Nervous System
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
Cataract, total congenital with posterior sutural opacities in Heterozygotes
Failure to thrive secondary to recurrent infections
Decreased proportion of CD3-positive T cells
Decreased lymphocyte proliferation in response to mitogen
Immunodeficiency due to Defect in CD3-Epsilon
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
Decreased proportion of CD8-positive T cells
Immunodeficiency due to Defect in CD3-Zeta
Unspecified infective arthritis involving upper arm
Unspecified infective arthritis involving forearm
Unspecified infective arthritis involving hand
Unspecified infective arthritis, pelvic region and thigh
Unspecified infective arthritis involving lower leg
Unspecified infective arthritis, ankle and foot
Childhood L2 Acute Lymphoblastic Leukemia
Adult Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor
Asymptomatic human immunodeficiency virus infection
Refractory cytopenia with multilineage dysplasia (RCMD)
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
IgM monoclonal gammopathy of uncertain significance
Reactivation of hepatitis B viral hepatitis
Antibody Deficiency due to Defect in CD19
bilateral testicular swelling by history (symptom)
Primary cutaneous diffuse large cell B-cell lymphoma
B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma
Refractory B Acute Lymphoblastic Leukemia
Lichenification and lichen simplex chronicus
Pityriasis Lichenoides et Varioliformis Acuta
Lymphocyte Rich Classical Hodgkin Lymphoma
Lymphomatoid papulosis type A (CD-30 positive type)
Recurrent Anaplastic Large Cell Lymphoma
Primary cutaneous gamma-delta T-cell lymphoma
Anaplastic diffuse large B-cell lymphoma
Traumatic ulcerative granuloma with stromal eosinophilia
Adult Acute Promyelocytic Leukemia with PML-RARA
Soft Tissue Tumor of Uncertain Differentiation
Mixed Cell Type Gastrointestinal Stromal Tumor
Pleomorphic hyalinizing angiectatic tumor of soft tissue
Autoimmune inflammation of skeletal muscle
Acute myeloid leukemia with mutated NPM1
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Van Maldergem Wetzburger Verloes syndrome
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
Susceptibility to viral and mycobacterial infection
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
Uterine Corpus High Grade Endometrial Stromal Sarcoma
Cervical Squamous Intraepithelial Neoplasia 1
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 5
Ectodermal dysplasia, hypohidrotic, with immune deficiency
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
Combined Hepatocellular Carcinoma and Cholangiocarcinoma
Congenital dyserythropoietic anemia, type II
Advanced Head and Neck Squamous Cell Carcinoma
Stage III Cervical Cancer AJCC v6 and v7
Epstein-Barr virus associated gastric carcinoma
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
Sex hormone binding globulin measurement
Histiocytosis with joint contractures and sensorineural deafness
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
Congenital dyserythropoietic anemia, type III
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Vascular Endothelial Growth Factor Measurement
Hypoplasia of the capital femoral epiphysis
Erythrocytosis due to low atmospheric pressure
Eversion of lateral third of lower eyelids
Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Malignant Mixed Mesodermal (Mullerian) Tumor
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
Advanced pneumatization of the mastoid process
Abnormality of the vertebral spinous processes
Mental Retardation, Autosomal Dominant 3
Secondary malignant neoplasm of bone marrow
Undifferentiated High Grade Pleomorphic Sarcoma of Bone
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
Transient Myeloproliferative Disorder of Down Syndrome
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
Ductal Carcinoma In Situ with Microinvasion
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
Diabetes Mellitus, Transient Neonatal, 1
Morphologically abnormal structure (morphologic abnormality)
Adenoid cystic carcinoma of lacrimal gland
Vaginal intraepithelial neoplasia grade 1
Vulval intraepithelial neoplasia grade 3
Human T-cell lymphotrophic virus, type I [HTLV-I]
Vulval intraepithelial neoplasia grade 1
Vulval intraepithelial neoplasia grade 2
Cervical Squamous Cell Carcinoma In Situ
Central Nervous System Melanocytic Neoplasm
Low Grade Malignant Peripheral Nerve Sheath Tumor
Carcinoma ex pleomorphic adenoma of parotid gland
Vulvar Intraepithelial Neoplasia, Differentiated Type
Low Grade Cervical Squamous Intraepithelial Neoplasia
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
Locally Advanced Squamous Cell Carcinoma
Advanced Hypopharyngeal Squamous Cell Carcinoma
Hypodiploid B Acute Lymphoblastic Leukemia
Metastatic Carcinoma to the Uterine Cervix
Central Nervous System Embryonal Tumor, Not Otherwise Specified
Adult Acute Myeloid Leukemia without Maturation
Acute Myeloid Leukemia with Gene Mutations
Acute myeloid leukemia with CEBPA somatic mutations
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Interrupted aortic arch between left subclavian and left common carotid artery
Pneumonia due to methicillin resistant Staphylococcus aureus
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
Abnormality of exocrine pancreas physiology
Protracted bronchitis caused by bacterium
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
Jejunal Atresia with Microcephaly and Ocular Anomalies
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Cholesteryl Ester Transfer Protein Measurement
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
Tapering pointed ends of distal finger phalanges
Pulmonary embolism with pulmonary infarction
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
Pulmonary Mycobacterium avium complex infection
Liver Disease Associated with Cystic Fibrosis
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
Pancreatitis due to pancreatic duct obstruction
Left ventricular outflow tract obstruction
Decreased activity of the pyruvate dehydrogenase complex
Generalized hypotonia due to defect at the neuromuscular junction
Apneic episodes precipitated by illness, fatigue, stress
Intermittent episodes of respiratory insufficiency due to muscle weakness
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
Abnormal brain FDG positron emission tomography
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
metastatic Ewing sarcoma/peripheral primitive neuroectodermal tumor
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
Osteomyelitis due to Staphylococcus aureus
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
Acid cholesteryl ester hydrolase deficiency, type 2
Muscular Dystrophy, Congenital, Megaconial Type
Proximal Myopathy with Focal Depletion of Mitochondria
Globe retraction and deviation on adduction
Abnormal vertebral segmentation and fusion
Other and unspecified reactive psychosis
Abnormality of multiple cell lineages in the bone marrow
Aplasia of the abdominal wall musculature
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Myasthenic syndrome, congenital, postsynaptic slow-channel
Weakness of long finger extensor muscles
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
Epilepsy, Nocturnal Frontal Lobe, Type 4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 3
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7
Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
Morphological abnormality of the gastrointestinal tract
Hypoplasia involving bones of the upper limbs
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
Deafness, Sensorineural, And Male Infertility
Patchy demyelination of subcortical white matter
Ivory epiphyses of the phalanges of the hand
Increased cellular sensitivity to UV light
Parathormone-independent increased renal tubular calcium reabsorption
Muscle hypertrophy of the lower extremities
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Erlenmeyer flask deformity of the femurs
Optic atrophy from cranial nerve compression
Serum chloride level decreased (finding)
Bartter Syndrome, Type 3, with Hypocalciuria
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
Hereditary Motor and Sensory Neuropathies
Ceroid Lipofuscinosis, Neuronal, Parry Type
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
Chlamydia trachomatis infection of genital structure
DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)
Encephalitis caused by tick-borne encephalitis virus
Acute myeloid leukemia, 11q23 abnormalities
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Chemokine (C-C Motif) Ligand 19 Measurement
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
Functional diarrhoea (due to spastic colon)
Neuronopathy, Distal Hereditary Motor, Type I
Akinetic-Rigid Variant of Huntington Disease
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta type IV (disorder)
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Femoral bowing present at birth, straightening with time
Periosteal thickening of long tubular bones
Bowing of limbs due to multiple fractures
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
Cortical thickening of long bone diaphyses
Osteogenesis imperfecta with blue sclerae AND normal teeth
Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome cardiac valvular type
Spondylometaphyseal dysplasia, 'corner fracture' type
Flattened, squared-off epiphyses of tubular bones
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stickler Syndrome, Type I, Nonsyndromic Ocular
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
Pierre Robin syndrome with fetal chondrodysplasia
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Shortening of all middle phalanges of the fingers
Abnormality of vertebral epiphysis morphology
Shortening of all proximal phalanges of the fingers
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
Ehlers-Danlos syndrome, type 3 (disorder)
Premature delivery because of cervical insufficiency or membrane fragility
Hypermobility of distal interphalangeal joints
Arteriovenous fistulas of celiac and mesenteric vessels
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
Supraventricular Arrhythmia by ECG Finding
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
Aplasia/Hypoplasia involving the skeletal musculature
Porencephaly, Type 1, Autosomal Dominant
Thickening of glomerular basement membrane
Thin glomerular basement membrane disease
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
Diffuse glomerular basement membrane lamellation
Adult type polycystic kidney disease type 1
Leiomyomatosis, esophageal and vulval, with nephropathy
Premature birth following premature rupture of fetal membranes
Restrictive deficit on pulmonary function testing
Loss of ability to walk in early childhood
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
Restricted neck movement due to contractures
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Localized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
Severe generalized recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Corneal dystrophy, Fuchs' endothelial, 1
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Juvenile osteochondrosis of tibial tubercle
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY
Epiphyseal Dysplasia, Multiple, with Myopathy
Metaphyseal cupping of proximal phalanges
Enlargement of the proximal femoral epiphysis
Macrodontia of permanent maxillary central incisor
Aplasia/Hypoplasia of the capital femoral epiphysis
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
Adult junctional epidermolysis bullosa (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
Childhood onset short-limb short stature
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
Small epiphyses of the phalanges of the hand
Central nervous system depression (disorder)
Schizophrenia Spectrum and Other Psychotic Disorders
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
Acute disseminated encephalitis and encephalomyelitis (ADEM)
Hereditary motor and sensory neuropathy, types I-IV
Peroneal muscular atrophy (axonal type) (hypertrophic type)
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
Moderate hereditary factor VIII deficiency disease
Familial multiple factor deficiency syndrome, type I
Congenital disorder of glycosylation, type 2C
Morphological abnormality of the vestibule of the inner ear
Hereditary factor VIII deficiency disease without inhibitor
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
Severe hereditary factor VIII deficiency disease without inhibitor
Congenital disorder of glycosylation type 1w
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
Decreased activity of mitochondrial respiratory chain
Focal T2 hyperintense basal ganglia lesion
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Neurodegeneration with brain iron accumulation (NBIA)
Neoplastic disease of uncertain behavior
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
Carnitine palmitoyl transferase 1A deficiency
Central Nervous System Metabolic Disorders
Metabolic Disorder, Central Nervous System, Acquired
Acquired Metabolic Diseases, Nervous System
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
Acute necrotizing encephalopathy of childhood
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
Plantar crease between first and second toes
Latent autoimmune diabetes mellitus in adult
Radial deviation of thumb terminal phalanx
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
Remitting seronegative symmetrical synovitis with pitting oedema syndrome
INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
Chronic obstructive pulmonary disease exacerbation
Stage I Pleural Malignant Mesothelioma AJCC v7
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
Benign concentric annular macular dystrophy
DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO
Cataract, Autosomal Recessive Congenital 1
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities
Cataract, Congenital Nuclear, Autosomal Recessive 3
Cataract, Congenital Nuclear, Autosomal Recessive 2
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
Hereditary and idiopathic neuropathy, unspecified
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
Congenital stenosis of aqueduct of Sylvius
Hernia of cerebellar tonsil into foramen magnum
Congenital malformation of corpus callosum
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
Surfactant Metabolism Dysfunction, Pulmonary, 4
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Meningitis caused by Streptococcus agalactiae
Acute severe refractory exacerbation of asthma
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
Adult Acute Myeloid Leukemia in Remission
Childhood Acute Myeloid Leukemia in Remission
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Neutropenia, Nonimmune Chronic Idiopathic, Adult
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
Isolated Growth Hormone Deficiency, Type II
Isolated deficiency of pituitary hormone
Necrosis of pituitary gland (postpartum)
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Non-Hereditary Clear Cell Renal Cell Carcinoma
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Decreased activity of mitochondrial complex I
Age-Related Macular Degeneration type 11
Hereditary cystatin C amyloid angiopathy
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
Patent or persistent ostium secundum defect (type II)
Patent or persistent sinus venosus defect
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
Atrial Septal Defect with Atrioventricular Conduction Defects
Hereditary persistence of fetal hemoglobin thalassemia
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
Malignant neoplasm of upper third of esophagus
Malignant neoplasm of middle third of esophagus
Malignant neoplasm of lower third of esophagus
Malignant neoplasm of other specified part of esophagus
Malignant neoplasm of abdominal part of esophagus
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Patterned dystrophy of retinal pigment epithelium
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
Autosomal recessive hypophosphatemic vitamin D refractory rickets
basal cell adenocarcinoma of salivary gland
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Constitutional Mismatch Repair Deficiency Syndrome
Pleomorphic lobular carcinoma in situ of breast
Severe combined immunodeficiency due to CTPS1 deficiency
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
Peroxisome Biogenesis Disorder, Complementation Group 1
Osteolytic defects of the distal phalanges of the hand
Absence of bactericidal oxidative respiratory burst in phagocytes
Deficiency or absence of cytochrome b(-245)
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Autosomal Recessive Chronic Granulomatous Disease
Atypical Mycobacteriosis, Familial, X-Linked 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Corticosterone Methyl Oxidase Type I Deficiency
Antley-Bixler Syndrome with Disordered Steroidogenesis
Corticosterone Methyl Oxidase Type II Deficiency
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
Bile Acid Synthesis Defect, Congenital, 3
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Steroidogenic Acute Regulatory Protein Deficiency
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Prostatic disorders (excl infections and inflammations)
Large cell calcifying Sertoli cell tumor
Hormone Receptor Positive Breast Carcinoma
Late onset congenital adrenal hyperplasia
Ehlers-Danlos syndrome caused by tenascin-X deficiency
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
Idiopathic infantile hypercalcemia - mild form
Abnormality of central somatosensory evoked potentials
Elevated alkaline phosphatase of bone origin
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the costochondral junction
CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Male sterility due to Y-chromosome deletions
Papillary transitional cell neoplasm of low malignant potential
Severe major depression with psychotic features
Disorder of branched-chain amino acid metabolism
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
Pyruvate Dehydrogenase Complex Deficiency Disease
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
Arteritic anterior ischemic optic neuropathy
Acute Anterior Wall Myocardial Infarction
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)
Complex regional pain syndrome I, unspecified
Acute lung injury/Acute respiratory distress syndrome (ARDS)
Myocardial infarction with nonobstructive coronary arteries
Behavioral syndrome associated with physiological disturbance and physical factors
Neuronopathy, Distal Hereditary Motor, Type Viib
Degeneration of the lateral corticospinal tracts
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
Distal hereditary motor neuropathy type 7
Lissencephaly and agenesis of corpus callosum
Classical Lissencephalies and Subcortical Band Heterotopias
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Defective DNA repair after ultraviolet radiation damage
Aromatic amino acid decarboxylase deficiency
Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta without osteogenesis imperfecta
Obesity, Hyperphagia, and Developmental Delay
Congenital disorder of glycosylation type 1r
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Inflammatory fibrous hyperplasia of mouth
Dilated cardiomyopathy secondary to viral myocarditis
Glycogen storage disease due to acid maltase deficiency, late-onset
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
Abnormality of the vestibulocochlear nerve
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Adult onset sensorineural hearing impairment
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Simple syndactyly of toes, first web space
Partial or complete agenesis of corpus callosum
Rudimentary postaxial polydactyly of hands
Infection by Pneumocystis jirovecii (disorder)
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Metastatic Lung Non-Squamous Non-Small Cell Carcinoma
Nadh-Cytochrome B5 Reductase Deficiency, Type I
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii
Autosomal recessive congenital methemoglobinemia type I
Type 2 diabetes mellitus without complication
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
Uniparental disomy, paternal, chromosome 14
Abnormality of female internal genitalia
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
MENTAL RETARDATION, X-LINKED 2 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
Childhood Central Nervous System Neoplasm
MENTAL RETARDATION, X-LINKED 91 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder)
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
X-linked muscular dystrophy with abnormal dystrophin
Severe childhood autosomal recessive muscular dystrophy
Transfusion associated graft versus host disease
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
Abnormal muscle fiber dystrophin expression
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified
Anemia, Hypochromic Microcytic, With Iron Overload
Ovotesticular Disorders of Sex Development
Ovotesticular Differences of Sex Development
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
Other specified congenital malformations of respiratory system
Abnormal respiratory motile cilium morphology
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Muscular atrophy, spinal, infantile chronic form
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
Charcot-Marie-Tooth Disease, Dominant Intermediate C
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
Hereditary Sensory Autonomic Neuropathy, Type 5
Primitive reflexes (palmomental, snout, glabellar)
Cerebellar Ataxia, Deafness, and Narcolepsy
Hereditary Sensory and Autonomic Neuropathy Type Ie
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Supraventricular tachycardia with an accessory connection mediated pathway
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
Congenital disorder of glycosylation type 1J
Favorable response of weakness to acetylcholine esterase inhibitors
Congenital disorder of glycosylation type 1s
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Metastatic Malignant Neoplasm to the Thyroid
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
Ventricular Fibrillation, Paroxysmal Familial, 2
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
Morphological abnormality of the pyramidal tract
Alcohol dependence with withdrawal, unspecified
Diffuse midline glioma, point mutation K27M in histone H3
Hyperkinetic conduct disorder of childhood
Attention Deficit and Disruptive Behavior Disorders
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
Benign adult familial myoclonic epilepsy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Hypotrichosis And Recurrent Skin Vesicles
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
Severe dermatitis, multiple allergies, metabolic wasting syndrome
Streaks of hyperkeratosis along each finger onto the palm
Focal palmoplantar keratoderma with joint keratoses
Diffuse palmoplantar keratoderma with painful fissures
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Palmoplantar keratosis with erythema and scale
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Cardiomyopathy dilated with Woolly hair and keratoderma
Ectodermal dysplasia/ skin fragility syndrome
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Hearing loss, sensorineural (high frequency)
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
Dentinogenesis imperfecta limited to primary teeth
Absent or minimally ossified vertebral bodies
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Ulnar deviation of the hand or of fingers of the hand
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
Duplication of the distal phalanx of hand
Transposition of the Great Arteries, Dextro-Looped 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
Reaction to severe stress, and adjustment disorders
Peripheral Autonomic Nervous System Diseases
Stage II Esophageal Squamous Cell Carcinoma
Contractures of the interphalangeal joint of the thumb
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Stage II Esophageal Squamous Cell Carcinoma AJCC v7
Congenital dysmotility of small intestine
Visceral myopathy familial external ophthalmoplegia
Decreased number of large peripheral myelinated nerve fibers
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Aplasia/Hypoplastia of the eccrine sweat glands
Abnormality of the temporomandibular joint
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
Upper Airway Resistance Sleep Apnea Syndrome
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
Congenital duodenal obstruction due to malrotation of intestine
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
Recurrent Lung Carcinoma Cell Type Unspecified
Familial primary hypomagnesemia with normocalciuria and normocalcemia
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Aplasia of the middle phalanx of the hand
intestinal adenocarcinoma of the stomach
Squamous cell carcinoma of the nasal cavity
Small cell neuroendocrine carcinoma of bladder
Barretts esophagus with high grade dysplasia
Mucoepidermoid carcinoma of parotid gland
Digital papillary eccrine carcinoma of skin
Pineal parenchymal tumor of intermediate differentiation
Testicular Intratubular Germ Cell Neoplasia, Unclassified
Other stomatitis and mucositis (ulcerative)
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Ankyloblepharon filiforme adnatum and cleft palate
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Epidermal growth factor receptor positive non-small cell lung cancer
Combined large cell neuroendocrine carcinoma
Primary mucoepidermoid carcinoma of lung
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Malignant Neoplasm of Lung - Multiple Primary Sites
Stage 0is Bladder Urothelial Carcinoma AJCC v6 and v7
Stage IIB Cervical Cancer AJCC v6 and v7
newly diagnosed non-small cell lung cancer
Neonatal inflammatory skin and bowel disease
Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary Motor and Sensory Neuropathy Type I
Charcot-Marie-Tooth disease, Type 1D (disorder)
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
Parkinsonism with favorable response to dopaminergic medication
Autosomal dominant late onset Parkinson disease
Idiopathic basal ganglia calcification 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Recurrent infection of the gastrointestinal tract
Neutropenia, Severe Congenital, Autosomal Dominant 1
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
Lubs X-linked mental retardation syndrome
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
Idiopathic atrophoderma of Pasini and Pierini
Atrophy/Degeneration involving the corticospinal tracts
Functional abnormality of male internal genitalia
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Other congenital anomalies of nervous system
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Venous varicosities of celiac and mesenteric vessels
Alcohol Withdrawal-Induced Major Motor Seizure
Iron deficiency anemia secondary to chronic blood loss
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
Combined D-2- and L-2-hydroxyglutaric aciduria
Lupus Vasculitis, Central Nervous System
Macrophage Colony Stimulating Factor Measurement
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
Excessive bleeding from superficial cuts
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
Deafness, prelingual, profound (affects all frequencies)
Secondary malignant neoplasm of mediastinum
Metastatic Squamous Cell Carcinoma of the Oropharynx
Inflammatory carcinoma of breast stage IV
Still's disease with juvenile onset and/or adult onset
Anatomic Stage IIIA Breast Cancer AJCC v8
Prognostic Stage IA Breast Cancer AJCC v8
Prognostic Stage IIIA Breast Cancer AJCC v8
Lethal Congenital Contracture Syndrome 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Metastatic Oral Cavity Squamous Cell Carcinoma
Mixed phenotype acute leukemia T/myeloid
Xeroderma pigmentosum and Cockayne syndrome complex
Hypoplasia of mandible relative to maxilla
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Pigmentation anomalies of sun-exposed skin
BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)
Cone dystrophy with supernormal rod response
Breast Carcinoma with Choriocarcinomatous Features
Congenital Disorder Of Glycosylation, Type In
Elevated tissue non-specific alkaline phosphatase
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
Neutral Lipid Storage Disease with Myopathy
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Anti-neutrophil cytoplasmic antibody positive vasculitis
Mammary Analog Secretory Carcinoma of Salivary Gland
Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Cone-shaped epiphyses of phalanges 2 to 5
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
Renal Failure, Progressive, with Hypertension
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
Morphological abnormality of the middle ear
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
Incomplete partition of the cochlea type II
Leukemia, Megakaryoblastic, of Down Syndrome
Partial thromboplastin time increased (finding)
Central Nervous System Vascular Malformations
Upper Extremity Deep Vein Thrombosis, Primary
Prolonged bleeding after dental extraction
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Familial Atypical Hemolytic Uremic Syndrome
Acute and subacute liver necrosis (disorder)
Central retinal vein occlusion - juvenile
Heparin cofactor II deficiency (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
Hereditary factor VIII deficiency disease with inhibitor
Familial multiple factor deficiency syndrome, type II
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Hereditary factor IX deficiency disease without inhibitor
Thrombophilia, X-Linked, Due To Factor Ix Defect
Antepartum hemorrhage affecting fetus or newborn
High molecular weight kininogen deficiency
Hereditary factor XII deficiency disease
Hereditary angioedema with normal C1 esterase inhibitor activity
Hereditary angioedema with normal C1 esterase inhibitor
Estren-Dameshek Variant of Fanconi Anemia
Estren-Dameshek Variant of Fanconi Pancytopenia
Deficient excision of UV-induced pyrimidine dimers in DNA
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Patent ductus arteriosus after birth at term
Abnormal aggressive, impulsive or violent behavior
Fifth finger distal phalanx clinodactyly
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
Myelodysplastic syndrome, no ICD-O subtype
Vater Association With Macrocephaly And Ventriculomegaly
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Microphthalmos co-occurrent with congenital ocular coloboma
Dilatation of pulmonary artery, unspecified
Congenital dilatation of pulmonary artery
Premature calcification of mitral annulus
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
Arthrogryposis-like hand anomaly and sensorineural deafness
Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma
Retinopathy of prematurity stage 1 - demarcation line
IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
Inherited disorder of porphyrin metabolism
Simple syndactyly of fingers - first web
Birth length greater than 97th percentile
Two carpal ossification centers present at birth
Aplasia/Hypoplasia of the distal phalanges of the toes
Autosomal recessive limb girdle muscular dystrophy type 2B
Complement Factor I (C3 inactivator) deficiency
Curved linear dimple below the lower lip
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
Familial Glucocorticoid Deficiency Type 1
Salivary Gland Carcinoma ex Pleomorphic Adenoma
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
Malignant neoplasm of upper lobe, bronchus or lung
Malignant neoplasm of middle lobe, bronchus or lung
Malignant neoplasm of lower lobe, bronchus or lung
Malignant neoplasm of other parts of bronchus or lung
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Cutis Gyrata Syndrome of Beare And Stevenson
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Spinal stenosis with reduced interpedicular distance
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Cervical Keratinizing Squamous Cell Carcinoma
Abnormal morphology of the limbic system
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Abnormality of the posterior cranial fossa
Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 2nd finger
Morphological abnormality of the semicircular canal
CANCER PROGRESSION AND TUMOR CELL MOTILITY
FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE
Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Hereditary clear cell renal cell carcinoma
Congenital hypoplasia of pulmonary artery
Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO
Congenital anomaly of gastrointestinal tract
Pyloric Stenosis, Infantile Hypertrophic 1
Pyloric Stenosis, Infantile Hypertrophic, 5
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
Congenital eye disorders (excl glaucoma)
Cataract, Autosomal Recessive Congenital 3
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
Abnormality of the pulmonary vasculature
Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
Inflammatory linear verrucous epidermal nevus
Onset of psoriasis in childhood (1-10 years)
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
Central Nervous System Embryonal Neoplasm
Abnormality of the superior cerebellar peduncle
Anterior concavity of thoracic vertebrae
Increased density of long bone diaphyses
Terminal Osseous Dysplasia and Pigmentary Defects
Underdeveloped superior crus of antihelix
Short chordae tendineae of the mitral valve
Abnormality of the fifth metatarsal bone
Short chordae tendineae of the tricuspid valve
Other congenital malformations of spine, not associated with scoliosis
Multinucleated giant chondrocytes in epiphyseal cartilage
Abnormal ossification involving the femoral head and neck
Muscle fiber cytoplasmatic inclusion bodies
Abnormal morphology of left ventricular trabeculae
Chronic myeloid leukemia in lymphoid blast crisis
Acute myeloid leukemia with mutated CEBPA
Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
Pulmonary Atresia With Ventricular Septal Defect
Selective mutism specific to childhood and adolescence
Epidermolysis bullosa with pyloric atresia
Hereditary Myopathy with Early Respiratory Failure
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
Adenoid cystic carcinoma of parotid gland
Central Nervous System Inborn Metabolic Diseases
Impaired visually enhanced vestibulo-ocular reflex
Decreased amplitude of sensory action potentials
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Sporadic adult-onset ataxia of unknown etiology
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB
Gastrointestinal stromal tumor of small intestine
Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIb
Macular hypopigmented whorls, streaks, and patches
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
Arhinia, choanal atresia, and microphthalmia
Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous
Genetic hyperferritinemia without iron overload
Site-specific infective disorders of skin
Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Frontotemporal Dementia With Motor Neuron Disease
Enterotoxigenic Escherichia coli gastrointestinal tract infection
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
Adult Lymphocyte-Rich Classical Hodgkin Lymphoma
Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Juvenile
Generalized tonic-clonic seizures with focal onset
Epilepsy, Childhood Absence, Susceptibility To, 4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EEG with spike-wave complexes (2.5-3.5 Hz)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
Epilepsy of infancy with migrating focal seizures
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
EEG with centrotemporal focal spike waves
Retinal microaneurysm with diabetes mellitus
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)
Pointed proximal second through fifth metacarpals
Decreased renal tubular phosphate excretion
Increased renal tubular phosphate reabsorption
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Increased level of galactonate in red blood cells
Increased level of galactitol in red blood cells
Abnormal motor nerve conduction velocity
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Anemia due to decreased red cell production
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Deficiency of Uroporphyrinogen III Synthase
Myeloid Proliferations Associated with Down Syndrome
Congenital dyserythropoietic anemia type IV
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
Recurrent mycobacterium avium complex infections
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
Familial Acute Myeloid Leukemia with Mutated Cebpa
Low Grade Gastric Intraepithelial Neoplasia
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
Partial defect of atrioventricular canal
Congenital hypoplasia of tricuspid valve
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
GSD IV, Neuromuscular Form, Fatal Perinatal
Fetal hydrops (in perinatal or congenital neuromuscular forms)
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
Atrophia Maculosa Varioliformis Cutis, Familial
Diabetes mellitus autosomal dominant type II (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder)
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Slowly progressive insulin dependent diabetes
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
Paresis of extensor muscles of the big toe
Abnormality of the autonomic nervous system
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
Neurotic, stress-related and somatoform disorders
Double Outlet Right Ventricle, Noncommitted VSD
Double Outlet Right Ventricle, Subaortic VSD
Double Outlet Right Ventricle, Subpulmonary VSD
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
Peripheral angiopathy in diseases classified elsewhere
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
Diffuse demyelination of the cerebral white matter
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Neutropenia, Severe Congenital, Autosomal Dominant 2
decreased absolute neurophile count (ANC)
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
Congenital disorder of glycosylation type 2D
Constitutional delay of growth and puberty
Mixed Somatotroph and Lactotroph Adenoma
Isolated Growth Hormone Deficiency, Type IB
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
Impaired growth-hormone response to insulin stimulation test
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
INCREASED RESPONSIVENESS TO GROWTH HORMONE
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
Decreased serum insulin-like growth factor 1
Specific disorders of sleep of non-organic origin
Congenital deficiency of intrinsic factor
Megaloblastic anemia due to inborn errors of metabolism
Fetal malnutrition without mention of light-for-dates
Aplasia/Hypoplasia of the middle phalanges of the hand
Craniometaphyseal dysplasia, autosomal recessive type
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Epilepsy with grand mal seizures on awakening (disorder)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)
X-linked Charcot-Marie-Tooth disease type 1
Knuckle pads, leuconychia and sensorineural deafness
Porokeratotic eccrine ostial and dermal duct nevus
Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp
Ichthyosis follicularis atrichia photophobia syndrome
Progressive hearing loss stapes fixation
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
Hyperkeratosis of the palms and soles and esophageal papillomas
DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY
Peripheral neuropathy with sensorineural hearing impairment syndrome
Gangliosidosis, Generalized GM1, Type 1 (disorder)
Intimal thickening in the coronary arteries
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Lethal Arthrogryposis With Anterior Horn Cell Disease
Follicular atrophoderma and basal cell epitheliomata
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
Facial Dysmorphism with Multiple Malformations
Pituitary Hormone Deficiency, Combined, 1
Hyperuricemic Nephropathy, Familial Juvenile 1
Recurrent upper and lower respiratory tract infections
Abnormal basal ganglia MRI signal intensity
Dysplastic distal thumb phalanges with a central hole
Other specified extrapyramidal and movement disorders
EEG with generalized epileptiform discharges
Impairment level: total impairment of both eyes (disorder)
Port-wine stain with oculocutaneous melanosis
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
Cleft at the superior portion of the pinna
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
Uni- and bilateral multifocal epileptiform discharges
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
Thyrotoxicosis due to pituitary thyroid hormone resistance
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Low urinary cyclic AMP response to PTH administration
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
Fibrous dysplasia of bone with intramuscular myxoma
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
Increased bone density with cystic changes
Large cafe-au-lait macules with irregular margins
Cortical subperiosteal resorption of humeral metaphyses
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
Night Blindness, Congenital Stationary, Autosomal Dominant 3
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Acute vascular insufficiency of intestine (disorder)
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Benign lymphocytic infiltration of Jessner
Elevated alkaline phosphatase of hepatic origin
Intestinal obstruction co-occurrent and due to decreased peristalsis
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to
MENTAL RETARDATION, X-LINKED 94 (disorder)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
Pneumonia caused by Gram positive bacteria
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
Mental Retardation, X-Linked, Syndromic, Christianson Type
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
Febrile infection related epilepsy syndrome
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II
Autoimmune Hepatitis with Centrilobular Necrosis
Barretts esophagus with low grade dysplasia
Familial Amyloid Polyneuropathy, Type IV
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Increased level of L-pyroglutamic acid in urine
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
Microsatellite instability-high solid malignant tumor
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Foveal photoreceptor outer segment loss on macular OCT
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
Anterior beaking of lower thoracic vertebrae
GERBICH BLOOD GROUP SYSTEM, GERBICH PHENOTYPE
LEBER CONGENITAL AMAUROSIS 12 (disorder)
Zoonotic form of cutaneous leishmaniasis
Contracture of the proximal interphalangeal joint of the 3rd finger
LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY
Trifunctional Protein Deficiency, Type 2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
Beta Thalassemia, Dominant Inclusion Body Type
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Amphetamine or related acting sympathomimetic abuse
Verotoxigenic Escherichia coli gastrointestinal tract infection
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
Depletion of components of the alternative complement pathway
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
Severe left ventricular systolic dysfunction
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
Nephronophthisis - medullary cystic disease
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)
Epidermal growth factor receptor negative non-small cell lung cancer
Distal sensory impairment of all modalities
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
Hemolytic anemia due to hexokinase deficiency
Neuropathy, hereditary motor and sensory, Russe type
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
Pulmonary arterial hypertension associated with connective tissue disease
Asthma, Nasal Polyps, And Aspirin Intolerance
BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO
Mycobacterium tuberculosis, susceptibility to infection by
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
Graham Little Piccardi Lassueur syndrome
Disseminated mycobacterium avium complex infection
Porphyria, Acute Intermittent, Nonerythroid Variant
Proliferative diabetic retinopathy - quiescent
Increased level of 3-hydroxy-3-methylglutaric acid in urine
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
Maturity-Onset Diabetes of the Young, Type 1
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
Abnormality of endocrine pancreas physiology
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
Underdeveloped inferior crus of antihelix
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
Microtia, Hearing Impairment, And Cleft Palate
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
Preaxial deficiency, postaxial polydactyly and hypospadias
FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Extranodal marginal zone B-cell lymphomas (low grade B-cell)
Ectodermal Dysplasia, Pure Hair-Nail Type
2nd-5th toe middle phalangeal hypoplasia
Contracture of the proximal interphalangeal joint of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the hallux
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
End stage renal disease due to hypertension
Abnormality of circulating cortisol level
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
Familial encephalopathy with neuroserpin inclusion bodies
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Distal Hereditary Motor Neuropathy, Type II
Spastic paraplegia 13, autosomal dominant
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)
Myelocytic leukemia-like syndrome, familial, chronic
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
Hepatic venoocclusive disease with immunodeficiency
Swine influenza virus (viruses that normally cause infections in pigs)
Malignant Childhood Central Nervous System Neoplasm
Influenza due to Influenza A virus subtype H7N9
STING-associated vasculopathy with onset in infancy
Chagas' disease without mention of organ involvement
SLE glomerulonephritis syndrome, WHO class IV
Post-inflammatory hyperpigmentation in lichen planus
Secondary angle-closure glaucoma - synechial
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
Tsc2 Angiomyolipomas, Renal, Modifier Of
Interferon gamma, receptor 1, deficiency
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
Megaloblastic anemia due to folate deficiency
Clinically Isolated Syndrome, CNS Demyelinating
Increased serum insulin-like growth factor 1
Experimental Organism Islet Cell Adenoma Neoplasm
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
diabetes (mellitus) due to autoimmune process
diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
Reduced insulin like growth factor binding protein acid labile subunit level
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS
Colon Mucosa-Associated Lymphoid Tissue Lymphoma
Small Lymphocytic Lymphoma with Plasmacytoid Differentiation
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)
Laboratory animal dander allergy (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
Ventilator dependence with inability to wean
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
Enlargement of the distal femoral epiphysis
Cone-shaped epiphysis of the 1st metacarpal
Thin proximal phalanges with broad epiphyses of the hand
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
Parenteral nutrition associated liver disease
PLCG2-associated antibody deficiency and immune dysregulation
GASTRIC CANCER SUSCEPTIBILITY AFTER H. PYLORI INFECTION
Duodenal ulcer caused by Helicobacter pylori
Interleukin 1 Receptor-Like 1 Measurement
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding)
Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma
Interleukin 2 Receptor, Alpha, Deficiency of
Eosinophilic meningitis due to Angiostrongylus cantonensis
Steroid Refractory Graft Versus Host Disease
Abnormally low T cell receptor excision circle level
Asthma-chronic obstructive pulmonary disease overlap syndrome
ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO
Pneumonia due to respiratory syncytial virus
Carcinoma ex pleomorphic adenoma of lacrimal gland
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
Primary intraocular non-Hodgkin malignant lymphoma
Decreased level of 1,5 anhydroglucitol in serum
INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Acute promyelocytic leukaemia differentiation syndrome
Severe pediatric obstructive sleep apnea
Extended Oligoarticular Juvenile Idiopathic Arthritis
Bacteremia due to Methicillin resistant Staphylococcus aureus
INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
Abnormality of the intrahepatic bile duct
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
Thiamine responsive megaloblastic anemia syndrome
MPTP-Induced Degeneration of the Striatum
Non-insulin-dependent diabetes mellitus with unspecified complications
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
Developmental Delay, Epilepsy, and Neonatal Diabetes
Maturity-onset diabetes of the young, type 10
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
Central Nervous System Neoplasms, Primary
High-grade neuroendocrine carcinoma of cervix uteri
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Juvenile idiopathic arthritis, enthesitis related arthritis
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
Skin-Hair-Eye Pigmentation, Variation In, 8
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10
Congenital abnormality of Eustachian tube
Primary papillary adenocarcinoma of lung
Pyramidal skinfold extending from the base to the top of the nails
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Epidermolysis bullosa simplex, Ogna type
Epidermolysis Bullosa Simplex With Pyloric Atresia
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
Inherited predisposition to essential thrombocythemia
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Severe combined immunodeficiency with low or normal B-cell numbers
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Abnormal morphology of right ventricular trabeculae
Leydig cell insensitivity to gonadotropin
Decreased circulating follicle stimulating hormone level
Decreased circulating luteinizing hormone level
Secondary malignant neoplasm of prostate
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
Continuous Muscle Fiber Activity, Hereditary
Autosomal dominant primary hypomagnesemia with hypocalciuria
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
Abnormality of the pancreatic islet cells
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Generalized Epilepsy and Paroxysmal Dyskinesia
Abnormality of the renal collecting system
Facial muscle weakness of muscles innervated by CN VII
Reduced brain N-acetyl aspartate level by MRS
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
Epilepsy, Benign Neonatal, 1, And-Or Myokymia
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
Convulsions, Benign Familial Infantile, 1
Metastatic Childhood Soft Tissue Sarcoma
Vascular Endothelial Growth Factor Receptor 2 Measurement
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Gastrointestinal Stromal Tumor of the Gastrointestinal Tract
Intermediate Risk Gastrointestinal Stromal Tumor
Spindle Cell Type Gastrointestinal Stromal Tumor
testicular embryonal carcinoma and teratoma
adult acute myeloid leukemia with inv(16)(p13;q22)
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
Absent pigmentation of the ventral chest
Monoclonal mast cell activation syndrome
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
Kallikrein, Decreased Urinary Activity of
adult nasal type extranodal NK/T-cell lymphoma
childhood nasal type extranodal NK/T-cell lymphoma
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
Microcephaly with Chorioretinopathy, Autosomal Dominant
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Posterior scalloping of vertebral bodies
Spondyloepimetaphyseal dysplasia with multiple dislocations
Abnormal calcification of the carpal bones
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY
Primary low grade serous adenocarcinoma of ovary
Epidermolytic palmoplantar keratoderma of Vorner
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolytic palmoplantar keratoderma Vorner type
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Mottled pigmentation of the trunk and proximal extremities
Discrete 2 to 5-mm hyper- and hypopigmented macules
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS
Lung Non-Keratinizing Squamous Cell Carcinoma
Pachyonychia Congenita, Type 2 (disorder)
Experimental Organism Malignant Hepatocholangiocellular Carcinoma
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
Increased level of propylene glycol in blood
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
Autosomal dominant epidermolysis bullosa simplex
Skin fragility with non-scarring blistering
Keratosis Palmaris et Plantaris Familiaris
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
Stage I Pancreatic Cancer AJCC v6 and v7
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
Recurrent loss of toenails and fingernails
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Maternal uniparental disomy of chromosome 1
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
Primary malignant neoplasm of endometrium
Congenital malformation of the urinary system
Patchy variation in bone mineral density
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Decreased small intestinal mucosa lactase activity
Familial hypercholesterolemia due to genetic defect of apolipoprotein B
Congenital Generalized Lipodystrophy Type 1
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
46,XY Disorder of Sex Development Due To LH Defects
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
Loss of gluteal subcutaneous adipose tissue
Increased adipose tissue around the neck
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Familial Multiple Coagulation Factor Deficiency I
Intraductal papillary adenocarcinoma with invasion
Lethal tight skin contracture syndrome (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
Loss of truncal subcutaneous adipose tissue
Insulin-resistant diabetes mellitus at puberty
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
Abnormal electrophysiology of sinoatrial node origin
Arteriosclerosis of small cerebral arteries
Acroosteolysis of distal phalanges (feet)
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Decreased sweating due to autonomic dysfunction
Thickening of the lateral border of the scapula
Disproportionate prominence of the femoral medial condyle
Pigment deposition in the trabecular meshwork
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11
HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
Grand mal status epilepticus, refractory
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
Abnormality of the femoral neck or head region
Visual acuity light perception with projection
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS
Malaria caused by Plasmodium not Plasmodium falciparum
PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding)
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
Congenital scoliosis due to bony malformation
Hemivertebra fusion or failure of segmentation with scoliosis
Non-Neoplastic Peripheral Nervous System Disorder
Immunodeficiency following hereditary defective response to Epstein-Barr virus
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
Lynch syndrome I (site-specific colonic cancer)
Osteoarthritis of the small joints of the hand
Eosinophilic infiltration of the esophagus
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
Congenital anomaly of cardiovascular system (disorder)
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
Congenital disorder of glycosylation type 1H
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Spinocerebellar tract disease in lower limbs
Hypoplasia of the abdominal wall musculature
Supranuclear Palsy, Progressive, 1, Atypical
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
Autosomal recessive spastic paraplegia type 70
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
Osteoarthrosis of the carpometacarpal joint of the thumb
Infection in solid organ transplant recipients
Human Papillomavirus-Related Squamous Cell Carcinoma
Systemic lupus erythematosus in remission
Infection caused by Human T-lymphotropic virus
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
Abnormality of circulating adrenocorticotropin level
Impaired cortisol response to insulin stimulation test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
Obesity due to melanocortin 4 receptor deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency
Macular corneal dystrophy Type II (disorder)
Natural Killer Cell Deficiency, Familial Isolated
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
childhood malignant fibrous histiocytoma of bone
Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
Inflexible adherence to routines or rituals
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
Mental Retardation, X-Linked, Syndromic 13
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Type I familial incomplete male pseudohermaphroditism
Focal EEG discharges with secondary generalization
Microcephaly with Simplified Gyral Pattern
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
Familial Mediterranean Fever, Autosomal Dominant
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA]
Inflammatory myopathy with abundant macrophages
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
Benign mixed epithelial and stromal tumor of kidney
Stage IB Non-Small Cell Lung Carcinoma AJCC v7
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Papillary renal cell carcinoma, familial
Congenital disorder of glycosylation type 2A
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
Familial progressive hyper and hypopigmentation
Calcification of the auricular cartilage
Premature fusion of phalangeal epiphyses
Bare Lymphocyte Syndrome, Type II, Complementation Group A
Chronic hepatitis due to cryptosporidium infection
Benign lymphoepithelial lesion of lacrimal gland
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Ocular albinism with congenital sensorineural deafness
Colorectal Large Cell Neuroendocrine Carcinoma
Precursor B-lymphoblastic lymphoma stage II
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Malignant lymphoma, mixed small and large cell, diffuse
Familial Cold Autoinflammatory Syndrome 1
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Interphalangeal joint contracture of finger
Type 2 diabetes mellitus with periodontal disease
Recurrent Malignant Peripheral Nerve Sheath Tumor
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
Osteolysis involving bones of the upper limbs
Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group B
Ankylosing spondylitis and other inflammatory spondylopathies
Congenital disorder of glycosylation type 1q
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
Electron Transport Chain Deficiencies, Mitochondrial
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Osteomyelitis leading to amputation due to slow healing fractures
Decreased distal sensory nerve action potential
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Increased sensitivity to ionizing radiation
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3
Parietal Foramina With Cleidocranial Dysplasia
Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Stenosis of the medullary cavity of the long bones
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
Central retinal vessel vascular tortuosity
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
Periodic paralysis with later-onset distal motor neuropathy
Electrocardiogram atrioventricular block complete heart block
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
Fetus affected by placental transfer of anticonvulsant
malignant neoplasm of large intestine stage IV
Neonatal thrombosis of cerebral venous sinus
Myotubular Myopathy with Abnormal Genital Development
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
Muscle abnormality related to mitochondrial dysfunction
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding)
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
Lymphoproliferative disorder caused by methotrexate
Yellow fever vaccine-associated viscerotropic disease
Epstein Barr virus positive mucocutaneous ulcer
Mucoepidermoid carcinoma of salivary gland
Pericardial constriction with growth failure
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Other disorders of branched-chain amino-acid metabolism
Colorectal Adenomatous Polyposis, Autosomal Recessive
B lymphoblastic leukemia lymphoma, no ICD-O subtype
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
Hyper-IgD periodic fever syndrome (HIDS)
Porokeratosis, Disseminated Superficial Actinic, 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURE SYNDROME 4
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
Polycystic Kidney, Type 1 Autosomal Dominant Disease
Osteosarcoma Arising in Paget Disease of Bone
Burkitt-Like Lymphoma with 11q Aberration
MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
Inclusion body myopathy, autosomal dominant
Multiple Pterygium Syndrome, Autosomal Dominant
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
Myopathy, Hyaline Body, Autosomal Recessive
electrocardiogram - left anterior hemiblock
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
Giant Platelet Syndrome with Thrombocytopenia
Cochleosaccular degeneration of the inner ear and progressive cataracts
Deafness, autosomal dominant nonsyndromic sensorineural 17
Focal Segmental Glomerulosclerosis Collapsing Variant
Accumulation of melanosomes in melanocytes
Melanin pigment aggregation in hair shafts
Deafness, autosomal dominant nonsyndromic sensorineural 22
DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
Childhood onset sensorineural hearing impairment
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
Glaucoma due to combination of mechanisms
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC
White mater abnormalities in the posterior periventricular region
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Exudative Vitreoretinopathy, Familial, X-Linked Recessive
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
Charcot-Marie-Tooth disease, demyelinating, Type 1F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Beemer type
Disproportionate shortening of the tibia
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
Urinary excretion of sialylated oligosaccharides
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
Cafe-au-lait macules with pulmonary stenosis
Symmetric spinal nerve root neurofibromas
Juvenile posterior subcapsular lenticular opacities
Chromosomal breakage induced by ionizing radiation
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Bullet-shaped middle phalanges of the hand
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Defective production of NFKB1-dependent cytokines
Decreased number of small peripheral myelinated nerve fibers
Cataract, congenital, with microcornea or slight microphthalmia
MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO
Serpentine fibula polycystic kidney syndrome
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
Haematopoietic neoplasms (excl leukaemias and lymphomas)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
childhood acute myeloid leukemia/other myeloid malignancies
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Metastatic Cervical Squamous Cell Carcinoma, Not Otherwise Specified
Postural hypotension with compensatory tachycardia
Anti-multiple nuclear dots antibody positivity
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
Aplasia/Hypoplasia of the distal phalanges of the hand
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Progressive calcification of costochondral cartilage
Triangular shaped distal phalanges of the hand
PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
Abnormal amplitude of pattern reversal visual evoked potentials
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
Autosomal dominant optic atrophy plus syndrome
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Disorganization of the anterior cerebellar vermis
X-linked intellectual disability with cerebellar hypoplasia syndrome
Microphthalmia, Isolated, with Cataract 2
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Mental and behavioral disorders due to use of cocaine, unspecified mental and behavioral disorder
Bladder Exstrophy and Epispadias Complex
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
Spastic paraplegia 11, autosomal recessive
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Autosomal dominant contiguous gene syndrome
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
Abnormal best corrected visual acuity test
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
Adenoid cystic carcinoma of submandibular gland
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
Congenital pontocerebellar hypoplasia type 8
Malignant neoplasm of endocrine pancreas
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
Sacral defect and anterior sacral meningocele
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2
locally advanced squamous cell carcinoma of the skin
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Dense calcifications in the cerebellar dentate nucleus
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
Calcification of the small brain vessels
Congenital abnormality of respiratory system
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
Pyruvate Dehydrogenase E1 Alpha Deficiency
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
X-linked Charcot-Marie-Tooth disease type 6
Tympanosclerosis involving other combination of structures
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
DEAFNESS, AUTOSOMAL RECESSIVE 17 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Calcific stippling of infantile cartilaginous skeleton
Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group 7
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
Peroxisome Biogenesis Disorder, Complementation Group 3
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Cholestasis, progressive familial intrahepatic 3
Familial intrahepatic cholestasis of pregnancy
Cholestasis, Progressive Familial Intrahepatic, 2
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
Increased serum bile acid concentration during pregnancy
Abnormal liver function tests during pregnancy
Intrahepatic cholestasis with episodic jaundice
Cholestasis, benign recurrent intrahepatic 1
Cardiomyopathy in other diseases classified elsewhere
Abscess of skin AND/OR subcutaneous tissue
Reduced antigen-specific T cell proliferation
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Congenital malformation syndromes involving early overgrowth
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Acute exacerbation of chronic obstructive bronchitis
Stage I Colorectal Cancer AJCC v6 and v7
Stage IV Lung Squamous Cell Carcinoma AJCC v7
B-cell small lymphocytic lymphoma recurrent
Increased proportion of transitional B cells
Decreased proportion of class-switched memory B cells
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
Primary acquired nasolacrimal duct obstruction
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE
Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities
CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
Polycystic kidneys, severe infantile with tuberous sclerosis
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced red cell pyruvate kinase activity
Absence of renal corticomedullary differentiation
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Coenzyme A synthase protein associated neurodegeneration
PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF
PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF
Cryptogenic multifocal ulcerous stenosing enteritis
6q24-Related Transient Neonatal Diabetes Mellitus
Paternal uniparental disomy of chromosome 6
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
Invasive Group A beta-hemolytic streptococcal disease
Hereditary X-Linked Recessive Spastic Paraplegia
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
Acute posterior multifocal placoid pigment epitheliopathy
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
X-linked intellectual disability Van Esch type
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Atrophy/Degeneration involving the spinal cord
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
Abnormal morphology of the cerebellar cortex
Morphological abnormality of the inner ear
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding)
CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF
Increased carotid artery intimal medial thickness
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
Primary Pulmonary Diffuse Large B-Cell Lymphoma
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Mucinous tubular and spindle cell carcinoma
Left anterior descending coronary artery occlusion
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
Polymorphous low grade adenocarcinoma of salivary gland
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Severe combined immunodeficiency with low T- and B-cell numbers
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
Splenic diffuse red pulp small B-cell lymphoma
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
Galactorrhea not associated with childbirth
Congenital Isolated Thyroid Stimulating Hormone Deficiency
Nystagmus associated with disorder of the vestibular system
Human Transmissible Spongiform Encephalopathies, Inherited
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Amyloidosis, Cerebral, with Spongiform Encephalopathy
EEG with persistent abnormal rhythmic activity
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
Congenital thrombotic disease, due to Protein C deficiency
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
Spinal cord posterior columns myelin loss
X-linked Charcot-Marie-Tooth disease type 5
Single interphalangeal crease of fifth finger
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
Wegener's granulomatosis with renal involvement
Metachromatic Leukodystrophy due to Saposin B Deficiency
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2 (disorder)
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Anomalous branches of internal carotid artery
Enlarged epiphyses of the proximal phalanges of the hand
Contracture of the distal interphalangeal joint of the fingers
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)
AIDS-Related Diffuse Large B-cell Lymphoma
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome
Hyperparathyroidism due to vitamin D deficiency
Abnormality of the parathyroid physiology
Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Chronic total occlusion of coronary artery
Cluster headaches and other trigeminal autonomic cephalgias
Congenital insufficiency of pulmonary valve
Abnormality of the somatic nervous system
Congenital absence of breast with absent nipple
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
Insulin treated type 2 diabetes mellitus
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
Non-Hodgkin's lymphoma of central nervous system
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Cutis Laxa, Autosomal Recessive, Type IIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
Abnormality of the dorsal column of the spinal cord
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
Large clumps of pigment irregularly distributed along hair shaft
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
Delayed proximal femoral epiphyseal ossification
BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
Disorders of both mitral and tricuspid valves
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
Combined Cellular And Humoral Immune Defects With Granulomas
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Vancomycin intermediate staphylococcus aureus infection
Capillary Malformation Without Arteriovenous Malformation
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
Vulvar Adenocarcinoma of Mammary Gland Type
Absent fourth finger distal interphalangeal crease
Microphthalmia associated with colobomatous cyst
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
Metabolic acidosis, NAG, acidifying salts
Hyperuricemic Nephropathy, Familial Juvenile 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Abnormality of enteric ganglion morphology
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Major histocompatibility complex class II deficiency
Bare Lymphocyte Syndrome, Type II, Complementation Group C
Bare Lymphocyte Syndrome, Type II, Complementation Group E
Bare Lymphocyte Syndrome, Type II, Complementation Group D
Hemolytic disease of fetus OR newborn due to RhD isoimmunization
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
Night Blindness, Congenital Stationary, Autosomal Dominant 1
RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
Severe early childhood onset retinal dystrophy
Biallelic RPE65 mutation associated retinal dystrophy
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
Elevated red cell adenosine deaminase activity
Hypoplasia or aplasia of radius, unilateral
Abnormality of bone marrow stromal cells
Recurrent herpes simplex infection of eye
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
Visual impairment and blindness (excl colour blindness)
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)
Mixed respiratory and metabolic acidosis
Multiminicore Disease, Moderate, with Hand Involvement
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
Malignant hyperthermia susceptibility type 1
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
Type 1 and type 2 muscle fiber minicore regions
Internally nucleated skeletal muscle fibers
Congenital myopathy with myasthenic-like onset
Salivary Gland Low Grade Cribriform Cystadenocarcinoma
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
Keratosis Follicularis Spinulosa Decalvans, X-Linked
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Foam cells with lamellar inclusion bodies
Loss of Purkinje cells in the cerebellar vermis
Genetic anticipation with paternal anticipation bias
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13
Abnormality of the spinocerebellar tracts
Early Infantile Epileptic Encephalopathy 6
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
Convulsions, Benign Familial Infantile, 4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
Early infantile epileptic encephalopathy, refractory
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
Paramyotonia Congenita Without Cold Paralysis
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
electrocardiogram left posterior hemiblock (finding)
Sudden unexpected nocturnal death syndrome
Complete heart block with broad QRS complexes
Developmental stagnation at onset of seizures
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Generalized Epilepsy With Febrile Seizures Plus, 7
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
Hyperkalemic distal renal tubular acidosis
Infantile encephalopathy AND lactic acidosis
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
lip and oral cavity squamous cell carcinoma
Beta-Aminoisobutyric Acid, Urinary Excretion of
Secondary malignant neoplasm of small intestine
Chemokine (C-X-C Motif) Ligand 6 Measurement
Decreased activity of mitochondrial complex II
Paragangliomas with Sensorineural Hearing Loss
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
Abnormal B-type natriuretic peptide level
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
Surfactant Metabolism Dysfunction, Pulmonary, 1
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
Autosomal recessive limb girdle muscular dystrophy type 2D
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Left Ventricular Systolic Dysfunction, CTCAE 3.0
Left Ventricular Systolic Dysfunction, CTCAE 5.0
Esophageal atresia with tracheoesophageal fistula (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
Congenital stenosis of nasal pyriform aperture
Deviation of the hand or of fingers of the hand
Mental Retardation, Autosomal Dominant 4
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
Microcephaly, Primary Autosomal Recessive, 6
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
Brain dopamine-serotonin vesicular transport disease
Soft tissue swelling of interphalangeal joints
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
Rhabdoid Tumor Predisposition Syndrome 2
Small cell carcinoma, hypercalcemic type
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
Progressive Proximal Myelopathic Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
Diffuse reticular or finely nodular infiltrations
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
Idiopathic Parkinsonism or Parkinson's disease
Primary Parkinsonism or Parkinson's disease
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
Impaired ability to form peer relationships
Facial onset sensory and motor neuronopathy syndrome
Food poisoning caused by Vibrio parahaemolyticus
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding)
Abnormal common carotid artery morphology
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Mental Retardation, X-Linked, With Panhypopituitarism
Developmental and speech delay due to SOX5 deficiency
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
Respiratory insufficiency due to defective ciliary clearance
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
Spastic paraplegia 15, autosomal recessive
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 3, autosomal dominant
Hereditary spastic paralysis, infantile onset ascending
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Cerebellar ataxia associated with quadrupedal gait
Central Nervous System Langerhans Cell Histiocytosis
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
Nystagmus and other irregular eye movements
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Spectrin-associated autosomal recessive cerebellar ataxia
Displacement of the external urethral meatus
Bile acid synthesis defect, congenital, 2
Irregular ossification at anterior rib ends
Keratoderma with scleroatrophy of the extremities
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Congenital disorder of glycosylation type 1y
Stage IV Adrenal Cortex Carcinoma AJCC v7
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia
Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted
Ichthyosis with hypotrichosis, autosomal recessive
Neutropenia and hyperlymphocytosis with large granular lymphocytes
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS
Neoplasm of uncertain or unknown behavior of testis
Precocious puberty with Sertoli cell tumor
Abnormal pigmentation of the oral mucosa
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa
Epileptic Encephalopathy, Early Infantile, 4
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
Autosomal dominant hyperinsulinism due to SUR1 deficiency
SURF1-related Charcot-Marie-Tooth disease type 4
Secondary malignant neoplasm of lymph nodes of neck
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
Immunodeficiency without anhidrotic ectodermal dysplasia
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
Dextrotransposition of the great arteries
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
Right aortic arch with mirror image branching
Recurrent infections in infancy and early childhood
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
X-linked reduction of thyroxine-binding globulin
THYROXINE-BINDING GLOBULIN, VARIANT A PHENOTYPE
THYROXINE-BINDING GLOBULIN, VARIANT P PHENOTYPE
Impaired pursuit initiation and maintenance
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Abnormality of the joint spaces of the elbow
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
Bleeding Disorder due to Defective Thromboxane A2 Receptor
Impaired thromboxane A2 agonist-induced platelet aggregation
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
Abnormality of alkaline phosphatase activity
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
Distal/middle symphalangism of 5th finger
Optic atrophy, intellectual disability syndrome
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding)
Malignant epithelial neoplasm of thyroid
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1
Corneal dystrophy, epithelial basement membrane
Groenouw corneal dystrophy type I (disorder)
Multiple self-healing epithelioma of Ferguson-Smith
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
Thrombophilia due to Thrombomodulin Defect
Human T-cell Lymphoma Virus Type -1 associated uveitis
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
Peripheral resistance to thyroid hormone
Granular cell tumor of the sellar region
Granular Cell Tumor of the Neurohypophysis
Thyroid Gland Carcinoma Showing Thymus-Like Differentiation
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
Mitochondrial DNA Depletion Syndrome, Myopathic Form
Depletion of mitochondrial DNA in muscle tissue
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
Simple diverticular disease of large intestine
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
Vaginal intraepithelial neoplasia grade 2
recurrent Wilms tumor and other childhood kidney tumors
Progressive Familial Heart Block, Type II
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
Mucinous cystic tumor of borderline malignancy
Colorectal Small Cell Neuroendocrine Carcinoma
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
Desmoplastic cerebral astrocytoma of infancy
Stage IV Hypopharyngeal Carcinoma AJCC v7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
Noninvasive carcinoma ex pleomorphic adenoma
Small cell carcinoma of the ovary, hypercalcemic type
Abnormality of reproductive system physiology
Anatomic Stage IIIB Breast Cancer AJCC v8
Prognostic Stage IIIB Breast Cancer AJCC v8
Stage IV Hypopharyngeal Squamous Cell Carcinoma AJCC v7
Advanced Squamous Cell Carcinoma of the Oropharynx
Advanced Oral Cavity Squamous Cell Carcinoma
Desmoplastic infantile astrocytoma and ganglioglioma
Microcephaly with Chorioretinopathy, Autosomal Recessive
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
Deficiency of iodide peroxidase (disorder)
Thyroid defect in oxidation and organification of iodide
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
Cone-shaped epiphyses of the middle phalanges of the hand
Swelling of proximal interphalangeal joints
Ivory epiphyses of the distal phalanges of the hand
Cone-shaped epiphyses of the proximal phalanges of the hand
Activating thyroid-stimulating hormone receptor defect
THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC
Sudden Infant Death with Dysgenesis of the Testes Syndrome
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
Myopathy, Early-Onset, with Fatal Cardiomyopathy
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
Familial amyloid polyneuropathy, type VI
Familial Amyloid Polyneuropathy, Jewish Type
Amyloid Polyneuropathy, British Type (disorder)
Familial Amyloid Polyneuropathy, Appalachian Type
Amyloid deposition in the vitreous humor
Transthyretin related familial amyloid cardiomyopathy
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH FRONTOTEMPORAL DEMENTIA
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
Combined Oxidative Phosphorylation Deficiency 4
Saethre-Chotzen Syndrome with Eyelid Anomalies
Stage IV Pancreatic Cancer AJCC v6 and v7
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Skin-Hair-Eye Pigmentation, Variation In, 11
Arthrogryposis multiplex congenita, distal, X-linked
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder)
Hyperinsulinism due to uncoupling protein 2 deficiency
Solute carrier family 35 member A2 congenital disorder of glycosylation
Decreased sialylation of O-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation
Elevated brain N-acetyl aspartate level by MRS
Chronic pulmonary insufficiency of prematurity
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Reduced orotidine 5-prime phosphate decarboxylase activity
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
Paternal uniparental disomy of chromosome 20
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
Abnormality of the musculature of the lower limbs
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
Adult-onset distal myopathy due to valosin containing protein mutation
Osteomalacia due to vitamin D deficiency
Moderate chronic obstructive pulmonary disease
Retinopathy of prematurity stage 4 - subtotal retinal detachment
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
Polycythemia due to excess erythopoetin production
Polycythemia due to fall in plasma volume
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
Calcineurin inhibitor induced pain syndrome
VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
Reduced quantity of Von Willebrand factor
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
Abnormal delayed hypersensitivity skin test
Absent microvilli on the surface of peripheral blood lymphocytes
Reduced lymphocyte surface expression of CD43
Other specified diabetes mellitus with unspecified complications
Limited mobility of proximal interphalangeal joint
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
Aplasia/Hypoplasia of the phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the toes
Aplasia/Hypoplasia involving the carpal bones
Gonadal tissue inappropriate for external genitalia or chromosomal sex
Gonadal dysgenesis with female appearance, male
X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
Acquired cystic disease associated renal cell carcinoma
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Sensorineural Deafness With Mild Renal Dysfunction
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
Congenital Disorder Of Glycosylation, Type IIB
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
Absent corpus callosum cataract immunodeficiency
Increased level of platelet-activating factor
Minimal deviation adenocarcinoma of endocervical type
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Invasive micropapillary carcinoma of breast
Pituitary Hormone Deficiency, Combined, 3
Hypothalamic luteinizing hormone-releasing hormone deficiency
Digeorge Syndrome-Velocardiofacial Syndrome Complex 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
Aplasia/Hypoplasia of the frontal sinuses
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
Proximal/middle symphalangism of 5th finger
Triangular shaped proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Hypersegmentation of proximal phalanx of third finger
Triangular epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 2nd finger
Triangular shaped proximal phalanx of the 3rd finger
Triangular shaped middle phalanx of the 3rd finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Hypersegmentation of proximal phalanx of second finger
Dynein arm defect of respiratory motile cilia
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
Renal cell carcinoma, usually clear cell type
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
Cataract, Autosomal Dominant, Multiple Types 1
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Rhizomelic chondrodysplasia punctata, type 2
Stippled calcification proximal humeral epiphyses
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
Immunodeficiency associated with other specified major defects
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Decreased proportion circulating T-helper cells
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
Absence of stomach bubble on fetal sonography
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Rhizomelic chondrodysplasia punctata, type 3
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
Muscular Dystrophy, Limb-Girdle, Type 2G
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Osteopetrosis, mild autosomal recessive form
Chronic rhinitis due to narrow nasal airway
Epileptic encephalopathy with global cerebral demyelination
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Blood thyroid stimulating hormone analysis
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
Bare Lymphocyte Syndrome, Type II, Complementation Group B
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
Cholestasis, benign recurrent intrahepatic 2
Congenitally corrected transposition of the great arteries
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
Interleukin 1 Receptor Antagonist Measurement
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Growth Hormone Deficiency With Pituitary Anomalies
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
Mental Retardation, Autosomal Dominant 5
Stage III Hepatocellular Carcinoma AJCC v7
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Esophageal High Grade Intraepithelial Neoplasia
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
PF-ILD-progressive fibrosing interstitial lung disease
Cortical diaphyseal thickening of the upper limbs
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Stage 0 Lung Adenocarcinoma AJCC v6 and v7
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
Late-onset isolated adrenocorticotropic hormone deficiency
Autosomal recessive spastic paraplegia type 59
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
X-linked hereditary sensory and autonomic neuropathy with deafness
Abnormality of peripheral nerve conduction
Cardiomyopathy in Duchenne muscular dystrophy
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
Severe intellectual disability and progressive spastic paraplegia
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
Spastic Paraplegia 42, Autosomal Dominant
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
Aplasia/Hypoplasia of the middle phalanges of the toes
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
AIDS-related diffuse large cell lymphoma
MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Undifferentiated Carcinoma with Osteoclast-Like Giant Cells
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
Gestational diabetes mellitus, class A>1<
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
Congenital disorder of glycosylation, type 2G
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
Nonsyndromic cleft lip with or without cleft palate
Cholestasis, progressive familial intrahepatic 4
Dipstick assessment of hemoglobin concentration
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Congenital bile acid synthesis defect type 3
Superior semicircular canal dehiscence syndrome
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
X-linked sideroblastic anemia with spinocerebellar ataxia
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
Patella aplasia, coxa vara, tarsal synostosis
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
Autosomal dominant limb girdle muscular dystrophy type 1A
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
Congenital dyserythropoietic anemia, type I
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
2p21 microdeletion syndrome without cystinuria
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
Charcot-Marie-Tooth Disease, Dominant Intermediate A
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
Amelogenesis imperfecta pigmented hypomaturation type
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
Slowed Nerve Conduction Velocity, Autosomal Dominant
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Abnormalities of placenta or umbilical cord
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
Short metacarpals with rounded proximal ends
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
Other congenital malformation syndromes with other skeletal changes
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Increased red cell hemolysis by shear stress
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
Early ossification of capital femoral epiphyses
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Aplasia cutis congenita over the scalp vertex
Interrupted inferior vena cava with azygous continuation
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
Slender long bones with narrow diaphyses
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
Aplasia of the distal phalanx of the hallux
Aplasia/hypoplasia of the 1st metatarsal
Aplasia of the distal phalanges of the hand
Shortening of all distal phalanges of the toes
Abnormality of the fontanelles or cranial sutures
Mental Retardation, Autosomal Dominant 1
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
Inability to walk by childhood/adolescence
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
Palpebral fissure narrowing on adduction
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
Decreased movement range in interphalangeal joints
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
Inclusion Body Myopathy, Autosomal Recessive
Sick Sinus Syndrome 2, Autosomal Dominant
SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION
Muscular Dystrophy, Limb-Girdle, Type 1D
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
Congenital hypertrophy of left ventricle
Mental Retardation, X-Linked, Syndromic, Turner Type
Micromelic dysplasia, congenital, with dislocation of radius
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
Combined Oxidative Phosphorylation Deficiency 3
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex IV
Amyotrophic Lateral Sclerosis, Autosomal Recessive
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Mental Retardation, X-Linked, with Epilepsy
Perinatal jaundice due to inspissated bile syndrome
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Congenital absence, atresia and stricture of auditory canal (external)
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
Neuropathy, hereditary motor and sensory, Okinawa type
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
Polymorphic Ventricular Tachycardia by ECG Finding
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
Fibrosis of Extraocular Muscles, Congenital, 3C
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Coloboma, cleft lip-palate and mental retardation syndrome
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3
COG5 congenital disorder of glycosylation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
Infection due to vancomycin resistant Staphylococcus aureus
Mental retardation X-linked, South African type
Pneumonia due to methicillin susceptible Staphylococcus aureus
Complicated skin and skin structure infection
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
Reduced activity of N-acetylglucosaminyltransferase II
Endopolyploidy on chromosome studies of bone marrow
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Generalized muscular appearance from birth
Congenital Disorder Of Glycosylation, Type IIF
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF
Abnormal response to ACTH stimulation test
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
Stage IB Lung Squamous Cell Carcinoma AJCC v7
Acute bronchitis due to respiratory syncytial virus
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Absence of Lutheran antigen on erythrocytes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60
Epilepsy co-occurrent and due to dementia
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
Bullet-shaped distal phalanx of the hallux
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
Spastic Paraplegia, Ataxia, And Mental Retardation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
Left aortic arch with retroesophageal right subclavian artery
Breast Mucosa-Associated Lymphoid Tissue Lymphoma
Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Spastic Paraplegia 39, Autosomal Recessive
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Bile acid CoA ligase deficiency and defective amidation
Persistent Oligoarticular Juvenile Idiopathic Arthritis
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
Increased subcutaneous truncal adipose tissue
Congenital malformation of the left heart
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder)
POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
X-linked cerebral, cerebellar, coloboma syndrome
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Congenital malformation of cerebral vessels NOS
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Other specified degenerative diseases of nervous system
Vasculopathy, Retinal, With Cerebral Leukodystrophy
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
Wilms tumor and radial bilateral aplasia
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
Congenital Disorder Of Glycosylation, Type Im
Partial duplication of the proximal phalanx of the 3rd finger
Complete duplication of the middle phalanx of the 3rd finger
Complete duplication of proximal phalanx of the thumb
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO (finding)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Congenital malformation syndromes affecting facial appearance
Abnormality of the twelfth cranial nerve
Abnormality of the eleventh cranial nerve
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54
Pallor of dorsal columns of the spinal cord
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Siderius X-linked mental retardation syndrome
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
Hereditary disturbances in tooth structure, NEC in ICD9CM_2014
Myoglobinuria, Acute Recurrent, Autosomal Recessive
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
Diffuse swelling of cerebral white matter
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
Self-mutilation of tongue and lips due to involuntary movements
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
Orthostatic Hypotensive Disorder, Streeten Type
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
Autosomal Recessive Cerebellar Ataxia Type 1
Atrophy/Degeneration affecting the central nervous system
Autosomal recessive myogenic arthrogryposis multiplex congenita
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
Long chain/very long chain acyl CoA dehydrogenase deficiency
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Abnormal number of granulocyte precursors
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Abnormal iron deposition in mitochondria
Deep cerebral white matter hyperdensities
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
Excessive skin wrinkling on dorsum of hands and fingers
Congenital disorder of glycosylation type 1L
Neonatal wrinkled skin of hands and feet
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12
Adult Nodular Sclerosis Classical Hodgkin Lymphoma
Childhood Nodular Sclerosis Classic Hodgkin Lymphoma
Complete duplication of the distal phalanges of the hand
Bile acid synthesis defect, congenital, 4
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
Stage I Esophageal Squamous Cell Carcinoma
Stage I Esophageal Squamous Cell Carcinoma AJCC v7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Malignant Ovarian Sex Cord-Stromal Tumor
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
Abnormality of the proximal phalanx of the thumb
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
Other specified congenital malformations of brain
Cortical dysplasia with focal epilepsy syndrome
Autism spectrum disorder due to AUTS2 deficiency
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Distal muscle atrophy due to neurologic disease
Normal serum phytanic and pristanic acid
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
Yellow subcutaneous tissue covered by thin, scaly skin
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Swan neck-like deformities of the fingers
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
Infantile free sialic acid storage disease
Cone rod dystrophy amelogenesis imperfecta
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Colorectal High Grade Intraepithelial Neoplasia
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 20/7 WITH POLYDACTYLY, DIGENIC (1 patient)
Disorder of sulfur-bearing amino acid metabolism
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria, CblD Type, Variant 2
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Bisphosphonate-Associated Osteonecrosis of the Jaw
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Mediastinal Mixed Embryonal Carcinoma and Teratoma
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Primary immunodeficiency syndrome due to p14 deficiency
Osteopetrosis and infantile neuroaxonal dystrophy
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Abnormal sensory nerve conduction velocity
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
Refractory Head and Neck Squamous Cell Carcinoma
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4
Elevated serum transaminases during infections
Congenital disorder of glycosylation type 1C
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Femoral hypoplasia - unusual facies syndrome
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder)
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Lateral displacement of the femoral head
Congenital hypothyroidism with ectopic thyroid
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Mitochondrial myopathy with lactic acidosis
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
Giant Axonal Neuropathy, Autosomal Dominant
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
Anti-liver cytosolic antigen type 1 antibody positivity
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Facial palsy secondary to cranial hyperostosis
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
Combined Oxidative Phosphorylation Deficiency 2
Abnormality of the middle phalanx of the 5th finger
Heart defect, tongue hamartoma and polysyndactyly
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
Invasive Pneumococcal Disease, Recurrent Isolated, 1
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
Mental Retardation, Autosomal Recessive 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Methylmalonic aciduria due to transcobalamin receptor defect
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
high-grade salivary gland mucoepidermoid carcinoma
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
Birk-Barel Mental Retardation Dysmorphism Syndrome
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT
Ichthyosis follicularis with alopecia and photophobia (IFAP)
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas
Abnormal timing of pattern reversal visual evoked potentials
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
Glycogen Storage Disease of Heart, Lethal Congenital
Ventricular preexcitation with multiple accessory pathways
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
Microcephalic primordial dwarfism Alazami type
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
DEAFNESS, NONSYNDROMIC, MODIFIER 1 (disorder)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
Pseudoepiphyses of the proximal phalanges of the hand
Duplication of the proximal phalanx of the hallux
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
AIDS-related immunoblastic large cell lymphoma
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
Polymicrogyria With Optic Nerve Hypoplasia
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
Charcot-Marie-Tooth Disease, Recessive Intermediate A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
Charcot-Marie-Tooth disease, Type 4A, axonal form
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Congenital Disorder of Glycosylation, Type Io
Carbohydrate deficient glycoprotein syndrome type 1o
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
Klippel-Feil deformity, conductive deafness, and absent vagina
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
Ectopia Lentis, Isolated, Autosomal Recessive
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
Abnormality of inferior oblique extraocular muscle
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Inherited disorder of bilirubin metabolism
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO
Amelogenesis imperfecta and gingival hyperplasia syndrome
Progressive Familial Heart Block, Type Ib
Maternal uniparental disomy of chromosome 20
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
Multicentric ossification of proximal humeral epiphyses
Multicentric ossification of proximal femoral epiphyses
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO
Osteoarthritis of distal interphalangeal joint
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
Malignant neoplasm of other major salivary glands
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
MORBID OBESITY AND SPERMATOGENIC FAILURE
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Granular osmiophilic deposits (GROD) in cells
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Abnormal axonemal organization of respiratory motile cilia
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Reticular Dystrophy Of Retinal Pigment Epithelium
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
Abnormality of the distal phalanx of the thumb
Abnormality of the epiphysis of the femoral head
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
Congenital malformations of palate, not elsewhere classified in ICD10CM
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
Anal intraepithelial neoplasia I and II (AIN I and II) (histologically confirmed)
Congenital malformation of cardiac chambers and connections, unspecified
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
Telangiectases in sun-exposed and nonexposed skin
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Malignant neoplasm of other and unspecified sites
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar hypoplasia with endosteal sclerosis
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
Microcephaly, Primary Autosomal Recessive, 3
Malformation of the hepatic ductal plate
Neuropathy in association with hereditary ataxia
Spinocerebellar ataxia with axonal neuropathy type 1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
Carbohydrate deficient glycoprotein syndrome type 2k
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
Biliary atresia with splenic malformation syndrome
Congenital disorder of glycosylation type 1K
Anti-cyclic citrullinated peptide antibody level
Familial Glucocorticoid Deficiency Type 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 5
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
Autistic spectrum disorder with isolated skills
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
Short proximal phalanx of the 2nd finger
Short proximal phalanx of the 5th finger
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
Focal T2 hypointense basal ganglia lesion
Benign familial mesial temporal lobe epilepsy
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
Keratoderma, Palmoplantar, Norrbotten Recessive Type
Other specified congenital malformations of skin
Inherited keratosis palmaris et plantaris
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Desmin related myopathy with Mallory body-like inclusions
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)
Autosomal recessive hyperimmunoglobulin M syndrome
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
Autosomal recessive lower motor neuron disease with childhood onset
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
Deafness, congenital onychodystrophy, recessive form
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Aplasia/Hypoplasia of the phalanges of the 2nd toe
Progressive myoclonic epilepsy with dystonia
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Aplasia cutis congenita over posterior parietal area
Aplasia cutis congenita on trunk or limbs
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
Abnormal activity of mitochondrial respiratory chain
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
Autosomal recessive cerebellar ataxia with late-onset spasticity
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
SPASTIC PARAPLEGIA 16, X-LINKED (disorder)
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
Shortening of all middle phalanges of the toes
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
Progressive polyneuropathy with bilateral striatal necrosis
Neuropathy, Distal Hereditary Motor, Type VIIA
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Autosomal recessive limb girdle muscular dystrophy type 2S
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Abnormality of the medullary cavity of the long bones
Abnormal circulating follicle-stimulating hormone level
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
3-methylcrotonyl CoA carboxylase 2 deficiency
Congenital malformation syndromes involving limbs
DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO (finding)
Intermittent generalized erythematous papular rash
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
Expanded phalanges with widened medullary cavities
Expanded metacarpals with widened medullary cavities
Expanded metatarsals with widened medullary cavities
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
1-5 finger complete cutaneous syndactyly
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
Acute non-ST segment elevation myocardial infarction (disorder)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
Mental Retardation, X-Linked, Syndromic 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
Congenital disorder of glycosylation type 1G
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
Increased serum iduronate sulfatase activity
MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Cataract, autosomal recessive congenital 2
EEG with periodic lateralized epileptiform discharges
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
Prolonged brainstem auditory evoked potentials
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Cutaneous syndactyly between fingers 2 and 5
Microcephaly, Primary Autosomal Recessive, 5
Increased rate of premature chromosome condensation
LETHAL CONGENITAL CONTRACTURE SYNDROME 10
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
Seborrhea-Like Dermatitis with Psoriasiform Elements
PTOSIS, HEREDITARY CONGENITAL 1 (disorder)
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
Severe demyelination of the white matter
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
Eye of the tiger anomaly of globus pallidus
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Autosomal recessive spastic paraplegia type 67
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
Extension of hair growth on temples to lateral eyebrow
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
LEBER CONGENITAL AMAUROSIS 10 (disorder)
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
Bile acid synthesis defect, congenital, 1
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
Irritant contact dermatitis due to incontinence
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
Dermatophilosis due to Dermatophilus congolensis
Spinal muscular atrophy with respiratory distress type 2
Vascular Cell Adhesion Molecule 1 Measurement
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
Anti-glutamic acid decarboxylase antibody positivity
Syndromic multisystem autoimmune disease due to ITCH deficiency
Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
Congenital hereditary endothelial dystrophy,CHED 2
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
Male infertility with teratozoospermia due to single gene mutation
Acute promyelocytic leukemia, in remission
Chemokine (C-C Motif) Ligand 21 Measurement
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6 (disorder)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
PITUITARY HORMONE DEFICIENCY, COMBINED, 4
Congenital Disorder Of Glycosylation, Type IIH
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
Mixed Epithelial/Mesenchymal Metaplastic Breast Carcinoma
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
Progressive loss of facial adipose tissue
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
Loss of subcutaneous adipose tissue from upper limbs
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
Sarcoma - category (morphologic abnormality)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
Anomalous origin of coronary artery from the pulmonary artery
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
Charcot-Marie-Tooth disease, axonal, Type 2G
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive
Locally Advanced Pancreatic Ductal Adenocarcinoma
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
General disorders and administration site conditions
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
Familial Cold Autoinflammatory Syndrome 2
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
Congenital disorder of glycosylation type 2E
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Neutropenia, Severe Congenital, Autosomal Recessive 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
Specific developmental disorders of speech and language
Ulnar-Fibular Ray Defect and Brachydactyly
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
Congenital pontocerebellar hypoplasia type 7
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
Spastic Paraplegia 33, Autosomal Dominant
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
Partial duplication of the distal phalanx of the hallux
Aplasia of the inferior half of the cerebellar vermis
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
Abnormal lower-limb motor evoked potentials
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY
Retinal dystrophy with early macular involvement
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
Neoplasm of skin with adnexal differentiation
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
Foveal Hypoplasia and Anterior Segment Dysgenesis
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL
Hypomagnesemia 5, Renal, with Ocular Involvement
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
Chronic atrial and intestinal dysrhythmia
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
Premature separation of centromeric heterochromatin
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Bifid Nose With Or Without Anorectal And Renal Anomalies
Increased level of L-glutamic acid in blood
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Immunoglobulin G subclass deficiency (finding)
Congenitally corrected transposition of the great arteries with ventricular septal defect
Absent in utero ossification of vertebral bodies
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
Midline skin dimples over anterior/posterior fontanelles
Combined Malonic and Methylmalonic Aciduria
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
Congenital disorder of glycosylation type 1X
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Multiple system atrophy, cerebellar variant
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
Skin-Hair-Eye Pigmentation, Variation In, 10
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION
Abnormal central microtubular pair morphology of respiratory motile cilia
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
Myopathy, congenital nonprogressive with Moebius and Robin sequences
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
Low density lipoprotein receptor adaptor protein 1 mutation
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
Acute on chronic hypercapnic respiratory failure
Deafness and intellectual disability Martin Probst type syndrome
Skin-Hair-Eye Pigmentation, Variation In, 4
Abnormal foveal morphology on macular OCT
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
Lipodystrophy, Congenital Generalized, Type 4
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
Microcephaly, Primary Autosomal Recessive, 2
Palmoplantar Hyperkeratosis And True Hermaphroditism
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
Hypotonia, speech impairment, severe cognitive delay syndrome
Follicular non-Hodgkin's lymphoma, small cleaved cell
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
Cystic Kidney Disease with Ventriculomegaly
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Cataracts, and Iris Abnormalities
Philadelphia positive acute lymphocytic leukaemia
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
Pili torti developmental delay neurological abnormalities
Cryptophthalmos, Unilateral or Bilateral, Isolated
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
Spastic paraplegia 25, autosomal recessive
Cataract, Juvenile, With Microcornea And Glucosuria
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
Sensorineural hearing loss, progressive bilateral postlingual
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
Non-infectious systemic inflammatory response syndrome
malignant neoplasm of large intestine stage IIIb
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder)
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
Childhood Malignant Testicular Germ Cell Tumor
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
SPASTIC PARAPLEGIA 34, X-LINKED (disorder)
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Symphalangism affecting the phalanges of the hallux
Femur bifid with monodactylous ectrodactyly
Split-Hand-Foot Malformation With Long Bone Deficiency 1
Malignant neoplasm of superior wall of nasopharynx
Malignant tumor of posterior wall of nasopharynx
Malignant tumor of lateral wall of nasopharynx
Malignant tumor of anterior wall of nasopharynx
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)
LETHAL CONGENITAL CONTRACTURE SYNDROME 6
Caused by mutation in the zinc finger- and BTB domain-containing protein-42 (ZBTB42, 613915.0001)
Microcephalic osteodysplastic primordial dwarfism types I and III
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT
Leukemic Phase of Non-Hodgkin's Lymphoma
ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF
Macrosomia obesity macrocephaly ocular abnormalities
Hypoplastic tibia and postaxial polydactyly syndrome
Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive
Thyroid Gland Follicular Carcinoma, Widely Invasive