GENO:0000148

• Perrault syndrome
• Troyer syndrome
• UV-sensitive syndrome
• 3-M syndrome
• 3MC syndrome
• Warburg micro syndrome
• Van Maldergem syndrome
• cold-induced sweating syndrome
• congenital secretory chloride diarrhea 1
• autosomal recessive hypophosphatemic rickets
• autosomal recessive cerebellar ataxia
• CEDNIK syndrome
• autosomal recessive non-syndromic intellectual disability
• Galloway-Mowat syndrome
• Parkinson's disease 2
• Parkinson's disease 6
• Parkinson's disease 7
• Parkinson's disease 15
• orofaciodigital syndrome V
• Native American myopathy
• acrorenal syndrome
• hypoparathyroidism-retardation-dysmorphism syndrome
• Vici syndrome
• autosomal recessive pyridoxine-refractory sideroblastic anemia 2
• acrocapitofemoral dysplasia
• triple-A syndrome
• acheiropody
• ABCD syndrome
• Usher syndrome type 1G
• Usher syndrome type 1K
• Usher syndrome type 1J
• Usher syndrome type 2C
• Usher syndrome type 2A
• Usher syndrome type 1D
• Usher syndrome type 1C
• Usher syndrome type 1E
• Usher syndrome type 1F
• Usher syndrome type 2D
• Usher syndrome type 3B
• Usher syndrome type 3A
• hereditary spastic paraplegia 62
• hereditary spastic paraplegia 61
• hereditary spastic paraplegia 64
• hereditary spastic paraplegia 63
• hereditary spastic paraplegia 72
• hereditary spastic paraplegia 7
• hereditary spastic paraplegia 74
• hereditary spastic paraplegia 5A
• hereditary spastic paraplegia 9A
• hereditary spastic paraplegia 9B
• hereditary spastic paraplegia 75
• hereditary spastic paraplegia 77
• hereditary spastic paraplegia 76
• atransferrinemia
• Bardet-Biedl syndrome
• Laurence-Moon syndrome
• hereditary spastic paraplegia 57
• pseudo-TORCH syndrome 1
• hereditary spastic paraplegia 50
• hereditary spastic paraplegia 49
• hereditary spastic paraplegia 52
• hereditary spastic paraplegia 51
• hereditary spastic paraplegia 54
• hereditary spastic paraplegia 53
• hereditary spastic paraplegia 56
• hereditary spastic paraplegia 55
• hereditary spastic paraplegia 48
• alopecia universalis
• oculocutaneous albinism
• Bowen-Conradi syndrome
• Athabaskan brainstem dysgenesis syndrome
• Brown-Vialetto-Van Laere syndrome
• CD3epsilon deficiency
• CD3gamma deficiency
• inflammatory bowel disease 28
• Bjornstad syndrome
• reticular dysgenesis
• DNA ligase IV deficiency
• immunodeficiency with hyper IgM type 3
• immunoglobulin alpha deficiency
• agammaglobulinemia 4
• congenital stationary night blindness 1D
• congenital stationary night blindness 1C
• congenital stationary night blindness 1E
• autosomal recessive polycystic kidney disease
• congenital stationary night blindness 1F
• congenital stationary night blindness 1H
• congenital stationary night blindness 1B
• familial lipoprotein lipase deficiency
• Ehlers-Danlos syndrome progeroid type
• Kahrizi syndrome
• temtamy preaxial brachydactyly syndrome
• spondyloepimetaphyseal dysplasia, Pakistani type
• urofacial syndrome
• nemaline myopathy 7
• nemaline myopathy 11
• nemaline myopathy 5
• autosomal recessive osteopetrosis 5
• nemaline myopathy 8