Term with siblings
neuronal ceroid lipofuscinosis 8 northern epilepsy variant

3-Methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type IX
3-methylglutaconic aciduria type VIII
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
abetalipoproteinemia
acrodermatitis enteropathica
AGAT deficiency
apparent mineralocorticoid excess syndrome
aromatic L-amino acid decarboxylase deficiency
aspartylglucosaminuria
atypical Gaucher's disease due to saposin c deficiency
autosomal recessive hypercholesterolemia
carnitine palmitoyltransferase I deficiency
cerebral folate receptor alpha deficiency
childhood onset GLUT1 deficiency syndrome 2
chondrodysplasia punctata +
choreaacanthocytosis
chromosomal disease +
chylomicron retention disease
ciliopathy +
CINCA Syndrome
cleidocranial dysplasia
cocoon syndrome
COL4A1-related familial vascular leukoencephalopathy
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
complex cortical dysplasia with other brain malformations 7
congenital adrenal insufficiency
congenital amegakaryocytic thrombocytopenia
congenital bile acid synthesis defect 1
congenital bile acid synthesis defect 2
congenital bile acid synthesis defect 3
congenital bile acid synthesis defect 4
congenital bile acid synthesis defect 5
congenital bile acid synthesis defect 6
congenital central hypoventilation syndrome
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 6
congenital diarrhea 7 with exudative enteropathy
congenital generalized lipodystrophy +
congenital hereditary endothelial dystrophy of cornea
congenital hypotrichosis with juvenile macular dystrophy
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy merosin-positive
congenital muscular dystrophy with cataracts and intellectual disability
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital nongoitrous hypothyroidism 1
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 4
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
corneal opacification and other ocular anomalies
Cornelia de Lange syndrome +
cortical dysplasia-focal epilepsy syndrome
corticosteroid-binding globulin deficiency
cortisone reductase deficiency 1
cortisone reductase deficiency 2
craniometaphyseal dysplasia
CST3-related cerebral amyloid angiopathy
cutaneous T cell lymphoma +
cystathioninuria
cystinosis
D-bifunctional protein deficiency
Danon disease
deafness-dystonia-optic neuronopathy syndrome
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
diastrophic dysplasia
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1I
dilated cardiomyopathy 1II
dilated cardiomyopathy 1J
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1K
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1T
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1W
dilated cardiomyopathy 1X
dilated cardiomyopathy 1Y
dilated cardiomyopathy 1Z
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
distal myopathy 1
DNA ligase IV deficiency
dopamine beta-hydroxylase deficiency
Doyne honeycomb retinal dystrophy
Dyggve-Melchior-Clausen disease +
dystonia 12
dystonia 16
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 27
dystonia 5
dystonia 9
early-onset Parkinson's disease 20
EAST syndrome
endocrine-cerebro-osteodysplasia syndrome
enhanced S-cone syndrome
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex Ogna type
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
erythrokeratodermia variabilis +
ethylmalonic encephalopathy
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial encephalopathy with neuroserpin inclusion bodies
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hemophagocytic lymphohistiocytosis 5
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 4
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia 1
familial hypocalciuric hypercalcemia 2
familial hypocalciuric hypercalcemia 3
familial isolated deficiency of vitamin E
familial Mediterranean fever
familial nephrotic syndrome +
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
Fanconi anemia complementation group L
Fanconi anemia complementation group N
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group R
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
fatal infantile hypertonic myofibrillar myopathy
fibrodysplasia ossificans progressiva
Finnish type amyloidosis
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
focal segmental glomerulosclerosis 9
Fuhrmann syndrome
Fukuyama congenital muscular dystrophy
Gaucher's disease perinatal lethal
Gaucher's disease type I
Gaucher's disease type II
Gaucher's disease type III
giant axonal neuropathy 1
giant axonal neuropathy 2
Gitelman syndrome
glycerol kinase deficiency
glycogen storage disease IXb
glycogen storage disease IXc
glycogen storage disease XV
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Hailey-Hailey disease
hemochromatosis type 1
hemochromatosis type 2A
hemochromatosis type 2B
hemochromatosis type 3
hemochromatosis type 4
hemochromatosis type 5
hereditary lymphedema IA
hereditary lymphedema IC
hereditary lymphedema ID
hereditary multiple exostoses
hereditary neuropathy with liability to pressure palsies
hereditary neutrophilia
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2B
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 7
hereditary sensory and autonomic neuropathy type 8
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary sensory neuropathy type 2C
hereditary sensory neuropathy type 4
hereditary spastic paraplegia 11
hereditary spastic paraplegia 17
hereditary spastic paraplegia 23
hereditary spastic paraplegia 62
hereditary spastic paraplegia 72
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 3
hereditary spherocytosis type 4
hereditary spherocytosis type 5
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 6
holoprosencephaly 7
holoprosencephaly 8
holoprosencephaly 9
hyperekplexia 1
hyperekplexia 2
hyperekplexia 3
hyperphosphatemia
hyperphosphatemic familial tumoral calcinosis
hypochondrogenesis
hypochondroplasia
hypogonadotropic hypogonadism 1 with or without anosmia
hypogonadotropic hypogonadism 10 with or without anosmia
hypogonadotropic hypogonadism 11 with or without anosmia
hypogonadotropic hypogonadism 12 with or without anosmia
hypogonadotropic hypogonadism 13 with or without anosmia
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 22 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 24 without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
hypogonadotropic hypogonadism 8 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypotrichosis 1
hypotrichosis 10
hypotrichosis 11
hypotrichosis 12
hypotrichosis 13
hypotrichosis 2
hypotrichosis 3
hypotrichosis 4
hypotrichosis 5
hypotrichosis 6
hypotrichosis 7
hypotrichosis 8
hypotrichosis 9
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunoglobulin alpha deficiency
infantile histiocytoid cardiomyopathy
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 21
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 25
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 28
inflammatory bowel disease 3
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
inherited blood coagulation disease +
intermediate spinal muscular atrophy
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 4
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 7
isolated microphthalmia 8
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
junctional epidermolysis bullosa Herlitz type
junctional epidermolysis bullosa non-Herlitz type
junctional epidermolysis bullosa with pyloric atresia
juvenile onset Parkinson's disease 19A
karyomegalic interstitial nephritis
Kniest dysplasia
Kufor-Rakeb syndrome
lambda 5 deficiency
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 2
lethal congenital contracture syndrome 3
lethal congenital contracture syndrome 4
lethal congenital glycogen storage disease of heart
lethal restrictive dermopathy
long QT syndrome 1
long QT syndrome 10
long QT syndrome 11
long QT syndrome 12
long QT syndrome 13
long QT syndrome 14
long QT syndrome 15
long QT syndrome 2
long QT syndrome 3
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
lysinuric protein intolerance
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
megalocornea
melorheostosis
methylmalonic acidemia cblA type
methylmalonic acidemia cblB type
methylmalonic acidemia due to transcobalamin receptor defect
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
mevalonic aciduria
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microvillus inclusion disease
mitochondrial complex II deficiency
mitochondrial complex III deficiency nuclear type 1
mitochondrial complex III deficiency nuclear type 2
mitochondrial complex III deficiency nuclear type 3
mitochondrial complex III deficiency nuclear type 4
mitochondrial complex III deficiency nuclear type 5
mitochondrial complex III deficiency nuclear type 6
mitochondrial complex III deficiency nuclear type 7
mitochondrial complex III deficiency nuclear type 8
mitochondrial complex III deficiency nuclear type 9
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Miura type epiphyseal chondrodysplasia
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
molybdenum cofactor deficiency type A
molybdenum cofactor deficiency type B
molybdenum cofactor deficiency type C
monogenic disease +
Mowat-Wilson syndrome
mucosulfatidosis
Muenke Syndrome
multiple acyl-CoA dehydrogenase deficiency
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia 7
multiple epiphyseal dysplasia due to collagen 9 anomaly
multiple pterygium syndrome
muscular dystrophy-dystroglycanopathy
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
myoclonic dystonia 11
myoclonic dystonia 15
myoclonic dystonia 26
Native American myopathy
nemaline myopathy 1
nemaline myopathy 10
nemaline myopathy 11
nemaline myopathy 2
nemaline myopathy 3
nemaline myopathy 4
nemaline myopathy 5
nemaline myopathy 6
nemaline myopathy 7
nemaline myopathy 8
nemaline myopathy 9
neurodegeneration with brain iron accumulation 2a
neurodegeneration with brain iron accumulation 2b
neurodegeneration with brain iron accumulation 3
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodevelopmental disorder with midbrain and hindbrain malformations
neurogenic arthrogryposis multiplex congenita
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 4A
neuronal ceroid lipofuscinosis 4A
neuronal ceroid lipofuscinosis 4B
neuronal ceroid lipofuscinosis 4B
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 6
neuronal ceroid lipofuscinosis 6
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 9
NGLY1-deficiency
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Noonan syndrome 10
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 8
Noonan syndrome 9
Norman-Roberts syndrome
Oguchi disease-1
Oguchi disease-2
osteogenesis imperfecta type 1
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 14
osteogenesis imperfecta type 15
osteogenesis imperfecta type 17
osteogenesis imperfecta type 2
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteogenesis imperfecta type 6
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
otulipenia
pantothenate kinase-associated neurodegeneration
Parkinson's disease 17
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
Perry syndrome
Peters anomaly
Pfeiffer syndrome
Pitt-Hopkins syndrome
poikiloderma with neutropenia
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
primary autosomal dominant microcephaly 18
primary autosomal recessive microcephaly +
primary coenzyme Q10 deficiency 1
primary coenzyme Q10 deficiency 2
primary coenzyme Q10 deficiency 3
primary coenzyme Q10 deficiency 4
primary coenzyme Q10 deficiency 5
primary coenzyme Q10 deficiency 6
primary coenzyme Q10 deficiency 7
primary coenzyme Q10 deficiency 8
primary congenital glaucoma +
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive familial intrahepatic cholestasis 1
progressive familial intrahepatic cholestasis 2
progressive familial intrahepatic cholestasis 3
progressive familial intrahepatic cholestasis 4
progressive familial intrahepatic cholestasis 5
progressive pseudorheumatoid arthropathy of childhood
prune belly syndrome
pseudoachondroplasia
purine nucleoside phosphorylase deficiency
pycnodysostosis
pyruvate kinase deficiency of red cells
recessive dystrophic epidermolysis bullosa
reticular dysgenesis
retinitis pigmentosa 1
retinitis pigmentosa 10
retinitis pigmentosa 11
retinitis pigmentosa 12
retinitis pigmentosa 13
retinitis pigmentosa 14
retinitis pigmentosa 17
retinitis pigmentosa 18
retinitis pigmentosa 19
retinitis pigmentosa 2
retinitis pigmentosa 20
retinitis pigmentosa 22
retinitis pigmentosa 23
retinitis pigmentosa 24
retinitis pigmentosa 25
retinitis pigmentosa 26
retinitis pigmentosa 27
retinitis pigmentosa 28
retinitis pigmentosa 29
retinitis pigmentosa 3
retinitis pigmentosa 30
retinitis pigmentosa 31
retinitis pigmentosa 32
retinitis pigmentosa 33
retinitis pigmentosa 34
retinitis pigmentosa 35
retinitis pigmentosa 36
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 39
retinitis pigmentosa 4
retinitis pigmentosa 40
retinitis pigmentosa 41
retinitis pigmentosa 42
retinitis pigmentosa 43
retinitis pigmentosa 44
retinitis pigmentosa 45
retinitis pigmentosa 46
retinitis pigmentosa 47
retinitis pigmentosa 48
retinitis pigmentosa 49
retinitis pigmentosa 50
retinitis pigmentosa 51
retinitis pigmentosa 54
retinitis pigmentosa 55
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 58
retinitis pigmentosa 59
retinitis pigmentosa 6
retinitis pigmentosa 60
retinitis pigmentosa 61
retinitis pigmentosa 62
retinitis pigmentosa 63
retinitis pigmentosa 66
retinitis pigmentosa 67
retinitis pigmentosa 68
retinitis pigmentosa 69
retinitis pigmentosa 7
retinitis pigmentosa 70
retinitis pigmentosa 71
retinitis pigmentosa 72
retinitis pigmentosa 73
retinitis pigmentosa 74
retinitis pigmentosa 75
retinitis pigmentosa 9
retinitis pigmentosa with or without situs inversus
right atrial isomerism
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome 1
Ritscher-Schinzel syndrome 2
Saethre-Chotzen syndrome
Saldino-Noonan syndrome
Schimke immuno-osseous dysplasia
schizophrenia 1
schizophrenia 10
schizophrenia 11
schizophrenia 12
schizophrenia 13
schizophrenia 14
schizophrenia 15
schizophrenia 16
schizophrenia 18
schizophrenia 2
schizophrenia 3
schizophrenia 4
schizophrenia 5
schizophrenia 6
schizophrenia 7
schizophrenia 8
schizophrenia 9
sclerosteosis 1
sclerosteosis 2
sepiapterin reductase deficiency
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
Silverman-Handmaker type dyssegmental dysplasia
sitosterolemia
Sorsby's fundus dystrophy
SOST-related sclerosing bone dysplasia
spermatogenic failure 10
spermatogenic failure 11
spermatogenic failure 12
spermatogenic failure 13
spermatogenic failure 14
spermatogenic failure 15
spermatogenic failure 16
spermatogenic failure 17
spermatogenic failure 18
spermatogenic failure 19
spermatogenic failure 20
spermatogenic failure 21
spermatogenic failure 22
spermatogenic failure 23
spermatogenic failure 3
spermatogenic failure 4
spermatogenic failure 5
spermatogenic failure 6
spermatogenic failure 7
spermatogenic failure 8
spinocerebellar ataxia type 1 with axonal neuropathy
split hand-foot malformation 1
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 2
split hand-foot malformation 4
split hand-foot malformation 6
SPOAN syndrome
spondylocarpotarsal synostosis syndrome
Stormorken syndrome
subacute sclerosing panencephalitis
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
tibial muscular dystrophy
torsion dystonia 1
torsion dystonia 13
torsion dystonia 17
torsion dystonia 2
torsion dystonia 4
torsion dystonia 6
torsion dystonia 7
Troyer syndrome
Ullrich congenital muscular dystrophy
ulnar-mammary syndrome
Walker-Warburg syndrome
Warsaw breakage syndrome
WHIM syndrome
Wolfram syndrome +
Worth's syndrome
X-linked dilated cardiomyopathy
XFE progeroid syndrome
Yunis-Varon syndrome
Child term(s)

is-a denotes an 'is-a' relationship