Parent term(s)
Term with siblings
long QT syndrome 5

3MC syndrome 1
3MC syndrome 2
3MC syndrome 3
ablepharon macrostomia syndrome
achondrogenesis type IB
achondrogenesis type II
achromatopsia 2
achromatopsia 3
achromatopsia 4
achromatopsia 7
acrocapitofemoral dysplasia
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
adult spinal muscular atrophy
adult-onset autosomal dominant demyelinating leukodystrophy
advanced sleep phase syndrome 1
advanced sleep phase syndrome 2
advanced sleep phase syndrome 3
age related macular degeneration 8
agenesis of the corpus callosum with peripheral neuropathy
Aland Island eye disease
alpha-2-plasmin inhibitor deficiency
Alzheimer's disease 18
Alzheimer's disease 3
Alzheimer's disease 4
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1E
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 3A
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 10
amyotrophic lateral sclerosis type 11
amyotrophic lateral sclerosis type 12
amyotrophic lateral sclerosis type 14
amyotrophic lateral sclerosis type 15
amyotrophic lateral sclerosis type 16
amyotrophic lateral sclerosis type 17
amyotrophic lateral sclerosis type 18
amyotrophic lateral sclerosis type 19
amyotrophic lateral sclerosis type 2
amyotrophic lateral sclerosis type 20
amyotrophic lateral sclerosis type 21
amyotrophic lateral sclerosis type 22
amyotrophic lateral sclerosis type 3
amyotrophic lateral sclerosis type 4
amyotrophic lateral sclerosis type 5
amyotrophic lateral sclerosis type 6
amyotrophic lateral sclerosis type 7
amyotrophic lateral sclerosis type 8
amyotrophic lateral sclerosis type 9
Andersen-Tawil syndrome
Andersen-Tawil syndrome
ARC syndrome
Armfield syndrome
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arts syndrome
atrial heart septal defect 2
atrial heart septal defect 3
atrial heart septal defect 4
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal dominant cerebellar ataxia +
autosomal dominant chronic granulomatous disease
autosomal dominant cutis laxa +
autosomal dominant dyskeratosis congenita 1
autosomal dominant dyskeratosis congenita 2
autosomal dominant dyskeratosis congenita 3
autosomal dominant dyskeratosis congenita 4
autosomal dominant dyskeratosis congenita 6
autosomal dominant Emery-Dreifuss muscular dystrophy 2
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant non-syndromic intellectual disability +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant Parkinson's disease 1
autosomal dominant Parkinson's disease 4
autosomal dominant Parkinson's disease 8
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant sideroblastic anemia
autosomal dominant type IV Ehlers-Danlos syndrome
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease cytochrome b-negative
autosomal recessive chronic granulomatous disease cytochrome b-positive type I
autosomal recessive chronic granulomatous disease cytochrome b-positive type II
autosomal recessive chronic granulomatous disease cytochrome b-positive type III
autosomal recessive congenital ichthyosis +
autosomal recessive cutis laxa type I +
autosomal recessive cutis laxa type II classic type +
autosomal recessive cutis laxa type IIB
autosomal recessive cutis laxa type III +
autosomal recessive distal spinal muscular atrophy 1
autosomal recessive distal spinal muscular atrophy 2
autosomal recessive dyskeratosis congenita 1
autosomal recessive dyskeratosis congenita 2
autosomal recessive dyskeratosis congenita 3
autosomal recessive dyskeratosis congenita 4
autosomal recessive dyskeratosis congenita 5
autosomal recessive dyskeratosis congenita 6
autosomal recessive early-onset Parkinson's disease 15
autosomal recessive early-onset Parkinson's disease 23
autosomal recessive early-onset Parkinson's disease 6
autosomal recessive early-onset Parkinson's disease 7
autosomal recessive Emery-Dreifuss muscular dystrophy 3
autosomal recessive hypophosphatemic rickets
autosomal recessive isolated ectopia lentis 2
autosomal recessive juvenile Parkinson's disease 2
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive Parkinson's disease 14
autosomal recessive pericentral pigmentary retinopathy
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive Robinow syndrome
autosomal recessive type IV Ehlers-Danlos syndrome
B cell linker protein deficiency
Barber-Say syndrome
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4a
Bartter disease type 4b
Bartter disease type 5
basal laminar drusen
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
blue color blindness
Borjeson-Forssman-Lehmann syndrome
brachydactyly type A1B
brachydactyly type A1C
brachydactyly type A1D
brachydactyly type A2
brachydactyly type B1
brachydactyly type B2
brachydactyly type C
brachydactyly type D
brachydactyly type E1
brachydactyly type E2
Brooks-Wisniewski-Brown syndrome
Brugada syndrome 1
Brugada syndrome 2
Brugada syndrome 3
Brugada syndrome 4
Brugada syndrome 5
Brugada syndrome 6
Brugada syndrome 7
Brugada syndrome 8
Brugada syndrome 9
Bruton-type agammaglobulinemia
campomelic dysplasia
Camurati-Engelmann disease
cardiofaciocutaneous syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 18
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 23
cataract 24
cataract 25
cataract 26 multiple types
cataract 27
cataract 28
cataract 29
cataract 3 multiple types
cataract 30
cataract 31 multiple types
cataract 32 multiple types
cataract 33
cataract 34 multiple types
cataract 35
cataract 36
cataract 37
cataract 38
cataract 39 multiple types
cataract 4 multiple types
cataract 40
cataract 41
cataract 43
cataract 44
cataract 45
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 6 multiple types
cataract 7
cataract 8 multiple types
cataract 9 multiple types
catecholaminergic polymorphic ventricular tachycardia 1
catecholaminergic polymorphic ventricular tachycardia 2
catecholaminergic polymorphic ventricular tachycardia 3
catecholaminergic polymorphic ventricular tachycardia 4
catecholaminergic polymorphic ventricular tachycardia 5
Cayman type cerebellar ataxia
CD3epsilon deficiency
CD3gamma deficiency
CD40 deficiency
Cenani-Lenz syndactyly syndrome
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type X +
Charcot-Marie-Tooth disease, axonal type 2W
childhood onset GLUT1 deficiency syndrome 2
chondrodysplasia punctata +
Christianson syndrome
chromosomal disease +
ciliopathy +
CINCA Syndrome
cleidocranial dysplasia
cocoon syndrome
Coffin-Siris 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
cone-rod dystrophy 1
cone-rod dystrophy 10
cone-rod dystrophy 11
cone-rod dystrophy 12
cone-rod dystrophy 13
cone-rod dystrophy 14
cone-rod dystrophy 15
cone-rod dystrophy 16
cone-rod dystrophy 17
cone-rod dystrophy 18
cone-rod dystrophy 19
cone-rod dystrophy 2
cone-rod dystrophy 20
cone-rod dystrophy 3
cone-rod dystrophy 5
cone-rod dystrophy 6
cone-rod dystrophy 7
cone-rod dystrophy 8
cone-rod dystrophy 9
congenital adrenal insufficiency
congenital amegakaryocytic thrombocytopenia
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 1A
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 2A
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
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
cortical dysplasia-focal epilepsy syndrome
corticosteroid-binding globulin deficiency
cortisone reductase deficiency 1
cortisone reductase deficiency 2
craniometaphyseal dysplasia
cutaneous T cell lymphoma +
deafness-intellectual disability, Martin-Probst type syndrome
Dent disease
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
Doyne honeycomb retinal dystrophy
Duchenne muscular 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
Ehlers-Danlos syndrome progeroid type
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 +
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial erythrocytosis 1
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hemophagocytic lymphohistiocytosis 5
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
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
gamma chain deficiency
giant axonal neuropathy 1
giant axonal neuropathy 2
Gitelman syndrome
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Hailey-Hailey disease
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 10
hereditary spastic paraplegia 11
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 16
hereditary spastic paraplegia 17
hereditary spastic paraplegia 18
hereditary spastic paraplegia 19
hereditary spastic paraplegia 2
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 29
hereditary spastic paraplegia 30
hereditary spastic paraplegia 31
hereditary spastic paraplegia 32
hereditary spastic paraplegia 33
hereditary spastic paraplegia 34
hereditary spastic paraplegia 35
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 39
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 6
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 8
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
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
hypertrophic cardiomyopathy 1
hypertrophic cardiomyopathy 10
hypertrophic cardiomyopathy 11
hypertrophic cardiomyopathy 12
hypertrophic cardiomyopathy 13
hypertrophic cardiomyopathy 14
hypertrophic cardiomyopathy 15
hypertrophic cardiomyopathy 16
hypertrophic cardiomyopathy 17
hypertrophic cardiomyopathy 18
hypertrophic cardiomyopathy 19
hypertrophic cardiomyopathy 2
hypertrophic cardiomyopathy 20
hypertrophic cardiomyopathy 21
hypertrophic cardiomyopathy 25
hypertrophic cardiomyopathy 26
hypertrophic cardiomyopathy 3
hypertrophic cardiomyopathy 4
hypertrophic cardiomyopathy 6
hypertrophic cardiomyopathy 7
hypertrophic cardiomyopathy 8
hypertrophic cardiomyopathy 9
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
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 6
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypomyelinating leukodystrophy 9
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 +
inherited metabolic disorder +
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
Jansen's metaphyseal chondrodysplasia
Jervell-Lange Nielsen syndrome
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 restrictive dermopathy
long QT syndrome 1
long QT syndrome 1
long QT syndrome 10
long QT syndrome 10
long QT syndrome 11
long QT syndrome 11
long QT syndrome 12
long QT syndrome 12
long QT syndrome 13
long QT syndrome 13
long QT syndrome 14
long QT syndrome 14
long QT syndrome 15
long QT syndrome 15
long QT syndrome 2
long QT syndrome 2
long QT syndrome 3
long QT syndrome 3
long QT syndrome 6
long QT syndrome 6
long QT syndrome 9
long QT syndrome 9
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
malignant hyperthermia
maturity-onset diabetes of the young +
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
MEHMO syndrome
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
Miles-Carpenter syndrome
Miura type epiphyseal chondrodysplasia
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
monogenic disease +
Mowat-Wilson syndrome
Muenke Syndrome
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
MYH-9 related disease
myoclonic dystonia 11
myoclonic dystonia 15
myoclonic dystonia 26
myofibrillar myopathy 1
myofibrillar myopathy 2
myofibrillar myopathy 3
myofibrillar myopathy 4
myofibrillar myopathy 5
myofibrillar myopathy 6
myofibrillar myopathy 7
myofibrillar myopathy 8
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 5
neurodegeneration with brain iron accumulation 6
neurodevelopmental disorder with midbrain and hindbrain malformations
neurogenic arthrogryposis multiplex congenita
Newfoundland cone-rod dystrophy
Noonan syndrome 10
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 8
Noonan syndrome 9
Norman-Roberts syndrome
ocular albinism with sensorineural deafness
Oguchi disease-1
Oguchi disease-2
orofaciodigital syndrome +
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
pantothenate kinase-associated neurodegeneration
Parkinson's disease 17
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
Pelizaeus-Merzbacher disease
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
Prieto syndrome
primary autosomal dominant microcephaly 18
primary autosomal recessive microcephaly +
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
purine nucleoside phosphorylase deficiency
pyridoxine-refractory autosomal recessive sideroblastic anemia
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
retinitis pigmentosa Y-linked
Revesz syndrome
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
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silverman-Handmaker type dyssegmental dysplasia
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
spermatogenic failure 9
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
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
Stormorken syndrome
subacute sclerosing panencephalitis
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability 94
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Chudley-Schwartz type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disability type 10
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
Wilson-Turner syndrome
Wolfram syndrome +
Worth's syndrome
X-linked chronic granulomatous disease
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked dilated cardiomyopathy
X-linked dyskeratosis congenita
X-linked Emery-Dreifuss muscular dystrophy 1
X-linked Emery-Dreifuss muscular dystrophy 6
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked sideroblastic anemia with ataxia
X-linked spermatogenic failure 2
XFE progeroid syndrome
Yunis-Varon syndrome
Child term(s)

is-a denotes an 'is-a' relationship