Term with siblings
muscular dystrophy-dystroglycanopathy type B5

arthrogryposis due to muscular dystrophy
Bethlem myopathy
childhood onset GLUT1 deficiency syndrome 2
choreaacanthocytosis
chromosomal disease +
cleidocranial dysplasia
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 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 malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A
congenital merosin-deficient muscular dystrophy 1A
congenital muscular dystrophy 1B
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy merosin-positive
congenital muscular dystrophy merosin-positive
congenital muscular dystrophy with cataracts and intellectual disability
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
cortical dysplasia-focal epilepsy syndrome
cortisone reductase deficiency 1
cortisone reductase deficiency 2
craniometaphyseal dysplasia
CST3-related cerebral amyloid angiopathy
cutaneous T cell lymphoma +
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
Dyggve-Melchior-Clausen disease +
enhanced S-cone syndrome
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex Ogna type
erythrokeratodermia variabilis +
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 hypocalciuric hypercalcemia 1
familial hypocalciuric hypercalcemia 2
familial hypocalciuric hypercalcemia 3
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
Fukuyama congenital muscular dystrophy
giant axonal neuropathy 1
giant axonal neuropathy 2
Gitelman 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 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
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
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
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
karyomegalic interstitial nephritis
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 restrictive dermopathy
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
megaconial type congenital muscular dystrophy
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
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microvillus inclusion disease
Miura type epiphyseal chondrodysplasia
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
monogenic disease +
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
muscular dystrophy-dystroglycanopathy +
muscular dystrophy-dystroglycanopathy +
muscular dystrophy-dystroglycanopathy type B6
muscular dystrophy-dystroglycanopathy type B6
Native American myopathy
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
neurogenic arthrogryposis multiplex congenita
Norman-Roberts 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
Pfeiffer syndrome
poikiloderma with neutropenia
polygenic disease +
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 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
pseudoachondroplasia
purine nucleoside phosphorylase deficiency
pyruvate kinase deficiency of red cells
recessive dystrophic epidermolysis bullosa
reticular dysgenesis
rigid spine muscular dystrophy 1
rigid spine muscular dystrophy 1
Saethre-Chotzen syndrome
Schimke immuno-osseous dysplasia
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
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
spondylocarpotarsal synostosis syndrome
Stormorken syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
tibial muscular dystrophy
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Walker-Warburg syndrome
Walker-Warburg syndrome
X-linked dilated cardiomyopathy
Child term(s)

is-a denotes an 'is-a' relationship