Select item 67390 Pfeiffer syndrome ACS V Acrocephalosyndactyly, type 5 FGFR1-Related Craniosynostosis Pfeiffer type acrocephalosyndactyly Select item 318886 Lynch syndrome 5 Colorectal cancer, hereditary nonpolyposis, type 5 Hereditary non-polyposis colorectal cancer, type 5 Select item 462064 Fasting plasma glucose level quantitative trait locus 5 Select item 373344 Microcephaly 5, primary, autosomal recessive Select item 856141 Bardet-Biedl syndrome 5 Select item 347898 3-methylcrotonyl-CoA carboxylase 2 deficiency 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency 3 alpha methylcrotonylglycinuria 2 MCC 2 deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency METHYLCROTONYLGLYCINURIA, TYPE II Methylcrotonylglycinuria type 2 Select item 152875 Hypercholesterolemia, familial, 1 Fredrickson type IIa hyperlipoproteinemia HYPER-LOW-DENSITY-LIPOPROTEINEMIA HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL Hyper-beta-lipoproteinemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type IIa Hyperlipoproteinemia type 2 LDL RECEPTOR DISORDER LDLR-Related Familial Hypercholesterolemia, Autosomal Dominant Select item 419332 Osteogenesis imperfecta type 5 OI type 5 OSTEOGENESIS IMPERFECTA, TYPE V Type V OI Select item 387801 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Cox deficiency, French Canadian type Cox deficiency, Saguenay Lac saint Jean type Cytochrome c oxidase deficiency, French Canadian type Leigh syndrome, French Canadian type Leigh syndrome, Saguenay Lac saint Jean type MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 Select item 413170 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Encephalomyopathy MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial encephalomyopathy aminoacidopathy Select item 338072 Atelosteogenesis type II Atelosteogenesis type 2 NEONATAL OSSEOUS DYSPLASIA I Neonatal osseous dysplasia 1 Select item 904175 Thyroid cancer, nonmedullary, 2 THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO THYROID CARCINOMA, FOLLICULAR Thyroid carcinoma, follicular, somatic Select item 462239 Factor 5 and Factor VIII, combined deficiency of, 2 Factor v and factor viii, combined deficiency of, 2 Select item 400438 Cerebral cavernous malformation 2 Cerebral cavernous malformations 2 Familial Cerebral Cavernous Malformation 2 Select item 39125 Polyglandular autoimmune syndrome, type 1 APS 1 APS I AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA Autoimmune Polyendocrinopathy Syndrome Type 1 Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy syndrome, type I Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis PGA 1 PGA I Whitaker syndrome Select item 416607 Neuroblastoma, susceptibility to, 2 Select item 1794136 Interstitial lung disease 2 Familial Pulmonary Fibrosis Familial idiopathic pulmonary fibrosis Fibrocystic pulmonary dysplasia Fibrosing alveolitis, cryptogenic Select item 11313 Sandhoff disease Beta-hexosaminidase-beta-subunit deficiency GM2 gangliosidosis, type 2 GM2-GANGLIOSIDOSIS, TYPE II HEXOSAMINIDASES A AND B DEFICIENCY Hexosaminidase A and B deficiency Disease Sandhoff-Jatzkewitz-Pilz disease Total hexosaminidase deficiency Select item 449382 Nonpapillary renal cell carcinoma Select item 350678 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome ARTHROGRYPOSIS, DISTAL, TYPE 5 ARTHROGRYPOSIS, DISTAL, TYPE IIB Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis Arthrogryposis with oculomotor limitation and electroretinal abnormalities Oculomelic amyoplasia 
