Term with siblings
autosomal dominant Alport syndrome

abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
achondrogenesis type II
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
adermatoglyphia
ADULT syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
agammaglobulinemia 5
age related macular degeneration +
Alexander disease
Alzheimer's disease 1
Alzheimer's disease 2
Alzheimer's disease 3
Alzheimer's disease 4
Alzheimer's disease 5
Alzheimer's disease 9
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Andersen-Tawil syndrome
apolipoprotein C-III deficiency
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
atrial heart septal defect 2
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
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata
autosomal dominant chronic granulomatous disease
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
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 endosteal hyperostosis
autosomal dominant familial periodic fever
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal dominant microcephaly
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 polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
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 4
autosomal dominant type IV Ehlers-Danlos syndrome
autosomal dominant Wolfram syndrome
autosomal recessive Alport syndrome
Axenfeld-Rieger syndrome +
Bannayan-Riley-Ruvalcaba syndrome
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
Beukes hip dysplasia
bilateral optic nerve hypoplasia
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
blue color blindness
brachydactyly type A1 +
brachydactyly type A2
brachydactyly type C
brachydactyly type D
branchiooculofacial syndrome
branchiootorenal syndrome +
bronchiectasis 1
bronchiectasis 2
bronchiectasis 3
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere syndrome
Brugada syndrome 1
Brugada syndrome 7
Brugada syndrome 9
bullous congenital ichthyosiform erythroderma
CADASIL 1
CADASIL 2
campomelic dysplasia
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney complex
Carney-Stratakis syndrome
cerebrocostomandibular 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 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 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
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 dominant intermediate G
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 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
cherubism
childhood onset GLUT1 deficiency syndrome 2
CINCA Syndrome
cleidocranial dysplasia
COL4A1-related familial vascular leukoencephalopathy
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
congenital central hypoventilation syndrome
congenital diarrhea 6
congenital dyserythropoietic anemia type IV
congenital muscular dystrophy due to LMNA mutation
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
cortisone reductase deficiency 2
Costello syndrome
Cowden syndrome
craniometaphyseal dysplasia
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy
Culler-Jones syndrome
D-2-hydroxyglutaric aciduria 2
Denys-Drash syndrome
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
distal myopathy 1
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
dysplastic nevus syndrome
dystonia 12
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 5
dystonia 9
ectodermal dysplasia +
EEC syndrome +
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex generalized type
epidermolysis bullosa simplex localized type
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
essential tremor 1
essential tremor 2
essential tremor 4
essential tremor 5
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial apolipoprotein A5 deficiency
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 erythrocytosis 3
familial erythrocytosis 5
familial hypocalciuric hypercalcemia +
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
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 R
Feingold syndrome
fibrodysplasia ossificans progressiva
Finnish type amyloidosis
Floating-Harbor syndrome
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
Frasier syndrome
giant axonal neuropathy 2
gnathodiaphyseal dysplasia
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Hailey-Hailey disease
Hajdu-Cheney syndrome
hand-foot-genital syndrome
hawkinsinuria
Heinz body anemia
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia
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 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 8
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 7
holoprosencephaly 9
Holt-Oram syndrome
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperekplexia 1
hyperekplexia 3
hyperferritinemia-cataract syndrome
hypertension and brachydactyly syndrome
hypochondroplasia
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 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 9 with or without anosmia
hypomyelinating leukodystrophy 6
hypophosphatasia +
hypotrichosis 1
hypotrichosis 11
hypotrichosis 12
hypotrichosis 13
hypotrichosis 2
hypotrichosis 3
hypotrichosis 4
hypotrichosis 5
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis vulgaris
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
inflammatory bowel disease 21
inflammatory bowel disease 3
intellectual disability-severe speech delay-mild dysmorphism syndrome
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
IVIC syndrome
Jansen's metaphyseal chondrodysplasia
juvenile glaucoma
juvenile polyposis syndrome
Klippel-Feil syndrome 1
Klippel-Feil syndrome 3
Kniest dysplasia
Koolen de Vries syndrome
LADD syndrome
Larsen syndrome
lateral meningocele syndrome
lattice corneal dystrophy
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Lenz-Majewski hyperostotic dwarfism
LEOPARD syndrome +
Li-Fraumeni syndrome +
Loeys-Dietz syndrome +
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
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia
mandibulofacial dysostosis, Guion-Almeida type
maturity-onset diabetes of the young +
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Meier-Gorlin syndrome 6
melanoma and neural system tumor syndrome
metachondromatosis
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
metatropic dysplasia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Miller-Dieker lissencephaly syndrome
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
monilethrix
Mowat-Wilson syndrome
Muckle-Wells syndrome
Muenke Syndrome
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
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
nail-patella syndrome
nemaline myopathy 1
nemaline myopathy 4
nemaline myopathy 6
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
neurofibromatosis +
nevoid basal cell carcinoma syndrome
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
ocular albinism with sensorineural deafness
Opitz-GBBB syndrome
optic atrophy 1
optic atrophy 10
optic atrophy 3
optic atrophy 4
optic atrophy 5
optic atrophy 8
orofacial cleft 1
orofacial cleft 13
orofacial cleft 6
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteoglophonic dysplasia
ovarian dysgenesis 8
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
PAPA syndrome
paraganglioma
Parkinson's disease 1
Parkinson's disease 17
Parkinson's disease 21
Parkinson's disease 22
Parkinson's disease 3
Parkinson's disease 4
Parkinson's disease 8
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
PCWH syndrome
Pelger-Huet anomaly
permanent neonatal diabetes mellitus
Perry syndrome
Pfeiffer syndrome
photosensitive trichothiodystrophy
piebaldism
Pitt-Hopkins syndrome
polycystic liver disease
popliteal pterygium syndrome
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
primary autosomal dominant microcephaly 18
primary failure of tooth eruption
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
proximal symphalangism
pseudoachondroplasia
punctate palmoplantar keratoderma type III
Rapp-Hodgkin syndrome
renal coloboma syndrome
retinitis pigmentosa 1
retinitis pigmentosa 10
retinitis pigmentosa 11
retinitis pigmentosa 13
retinitis pigmentosa 17
retinitis pigmentosa 18
retinitis pigmentosa 27
retinitis pigmentosa 33
retinitis pigmentosa 35
retinitis pigmentosa 37
retinitis pigmentosa 4
retinitis pigmentosa 42
retinitis pigmentosa 60
retinitis pigmentosa 63
retinitis pigmentosa 7
retinitis pigmentosa 70
retinitis pigmentosa 9
retinitis pigmentosa-deafness syndrome
Revesz syndrome
rippling muscle disease 2
Rubinstein-Taybi syndrome
SADDAN
Saethre-Chotzen syndrome
schizophrenia 1
schizophrenia 10
schizophrenia 11
schizophrenia 12
schizophrenia 15
schizophrenia 2
schizophrenia 3
schizophrenia 4
schizophrenia 5
schizophrenia 6
schizophrenia 7
schizophrenia 8
sclerosteosis 2
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
SHORT syndrome
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
spermatogenic failure 10
spermatogenic failure 11
spermatogenic failure 12
spermatogenic failure 2
spermatogenic failure 3
spermatogenic failure 4
spermatogenic failure 8
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome
STING-associated vasculopathy with onset in infancy
Stormorken syndrome
Sweeney-Cox syndrome
tarsal-carpal coalition syndrome
Thiel-Behnke corneal dystrophy
tibial muscular dystrophy
Tietz syndrome
Timothy syndrome
torsion dystonia 1
torsion dystonia 13
torsion dystonia 4
torsion dystonia 6
torsion dystonia 7
torsion dystonia with onset in infancy
Townes-Brocks syndrome
transthyretin amyloidosis
Treacher Collins syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tuberous sclerosis +
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy
ulnar-mammary syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Waardenburg's syndrome +
Weaver syndrome
WHIM syndrome
Worth's syndrome
X-linked Alport syndrome
Child term(s)

is-a denotes an 'is-a' relationship