Select item 481975 Breast-ovarian cancer, familial, susceptibility to, 4 Breast-ovarian cancer, familial 4 RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer Select item 401097 Hereditary spastic paraplegia 4 Familial spastic paraplegia autosomal dominant 2 Spastic Paraplegia 4 Spastic paraplegia 4, autosomal dominant Select item 416691 Atypical hemolytic-uremic syndrome with B factor anomaly AHUS, SUSCEPTIBILITY TO, 4 Atypical hemolytic-uremic syndrome 4 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 Select item 482072 Pancreatic cancer, susceptibility to, 4 Select item 325005 Lynch syndrome 4 Colorectal cancer, hereditary nonpolyposis, type 4 Hereditary non-polyposis colorectal cancer, type 4 Select item 82790 Ehlers-Danlos syndrome, type 4 Ehlers Danlos syndrome, Sack-Barabas type Ehlers Danlos syndrome, arterial type Ehlers Danlos syndrome, ecchymotic type Ehlers-Danlos Syndrome Type IV Ehlers-Danlos syndrome vascular type Select item 375313 Body mass index quantitative trait locus 4 OBESITY (BMIQ4), SUSCEPTIBILITY TO Select item 349380 Paragangliomas 4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 Paraganglioma, familial malignant Paragangliomas, hereditary extraadrenal Pheochromocytoma, extraadrenal and cervical paraganglioma Pheochromocytoma, familial extraadrenal SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 4) Select item 220906 X-linked severe combined immunodeficiency IMMUNODEFICIENCY 4 Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative T-B+ severe combined immunodeficiency due to gamma chain deficiency X-Linked Combined Immunodeficiency Diseases Select item 155703 Spinocerebellar ataxia type 1 CEREBELLOPARENCHYMAL DISORDER I Cerebelloparenchymal disorder 1 OLIVOPONTOCEREBELLAR ATROPHY I OLIVOPONTOCEREBELLAR ATROPHY IV Olivopontocerebellar atrophy 1 Olivopontocerebellar atrophy 4 SPINOCEREBELLAR ATROPHY I Spinocerebellar atrophy 1 Select item 436443 Multiple sclerosis, susceptibility to, 4 Select item 68663 Mucolipidosis type IV ML 4 ML IV Mucolipidosis type 4 Select item 761234 Autosomal recessive nonsyndromic hearing loss 4 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC Deafness, autosomal recessive 4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Enlarged vestibular aqueduct, digenic FOXI1-Related Pendred Syndrome KCNJ10-Related Pendred Syndrome NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 Nonsyndromic enlarged vestibular aqueduct (NSEVA) Select item 384027 Pontocerebellar hypoplasia type 4 Encephalopathy fatal infantile with olivopontocerebellar hypoplasia TSEN54-Related Pontocerebellar Hypoplasia Select item 462351 Retinitis pigmentosa 4 RETINITIS PIGMENTOSA, RHODOPSIN-RELATED RP 4 Select item 140820 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Cerebromuscular dystrophy, Fukuyama type Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Fukuyama congenital muscular dystrophy Fukuyama type muscular dystrophy Muscular dystrophy, congenital progressive, with mental retardation Muscular dystrophy, congenital, with central nervous system involvement WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED Walker-Warburg Syndrome, Fktn-Related Select item 1750917 Mitochondrial complex IV deficiency, nuclear type 1 COX deficiency Complex 4 mitochondrial respiratory chain deficiency Complex IV deficiency Deficiency of mitochondrial respiratory chain complex4 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Mitochondrial Respiratory Chain Complex IV Deficiency (mitochondrial genes) Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) Mitochondrial complex IV deficiency Select item 338324 Oculocutaneous albinism type 4 Albinism, oculocutaneous, type IV Select item 376309 Heterotopia, periventricular, X-linked dominant HETEROTOPIA, PERIVENTRICULAR, 1 Heterotopia familial nodular Nodular heterotopia bilateral periventricular PERIVENTRICULAR NODULAR HETEROTOPIA 1 PERIVENTRICULAR NODULAR HETEROTOPIA 4 X-linked periventricular heterotopia Select item 347765 Psoriasis 4, susceptibility to 
