Parent term(s)
Term with siblings
triple-A syndrome

3-M syndrome
3MC syndrome +
ABCD syndrome
aceruloplasminemia
achalasia microcephaly syndrome
acheiropody
achondrogenesis type IB
achromatopsia 2
achromatopsia 3
achromatopsia 7
acrocapitofemoral dysplasia
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
adrenoleukodystrophy
adult spinal muscular atrophy
agenesis of the corpus callosum with peripheral neuropathy
Aicardi-Goutieres syndrome
alpha-2-plasmin inhibitor deficiency
Alstrom syndrome
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 2A1
Antley-Bixler syndrome
ARC syndrome
arrhythmogenic right ventricular dysplasia 11
asphyxiating thoracic dystrophy +
Athabaskan brainstem dysgenesis syndrome
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal recessive Alport 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 nonsyndromic deafness +
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 pericentral pigmentary retinopathy
autosomal recessive polycystic kidney disease
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
autosomal recessive Robinow syndrome
autosomal recessive type IV Ehlers-Danlos syndrome
Bardet-Biedl syndrome +
Barth syndrome
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
beta-ketothiolase deficiency
Bjornstad syndrome
Bloom syndrome
blue cone monochromacy
Bowen-Conradi syndrome
brachyolmia-amelogenesis imperfecta syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Brooks-Wisniewski-Brown syndrome
Brunner Syndrome
Bruton-type agammaglobulinemia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Canavan disease
cartilage-hair hypoplasia
CD40 deficiency
CD40 ligand deficiency
CEDNIK syndrome
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
Chediak-Higashi syndrome
cleft lip-palate-ectodermal dysplasia syndrome
Cockayne syndrome
cold-induced sweating syndrome +
congenital stationary night blindness 1A
congenital stationary night blindness 2A
craniolenticulosutural dysplasia
cystic fibrosis
Dent disease
dilated cardiomyopathy with woolly hair and keratoderma
Donnai-Barrow syndrome
Donohue syndrome
Duchenne muscular dystrophy
Ehlers-Danlos syndrome progeroid type
Ellis-Van Creveld syndrome
epidermodysplasia verruciformis
epidermolysis bullosa simplex with muscular dystrophy
fibular hypoplasia and complex brachydactyly
Fraser syndrome
Galloway-Mowat syndrome +
glycogen storage disease IXa
glycogen storage disease IXd
Griscelli syndrome +
hemophilia B
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
Hermansky-Pudlak syndrome +
hydrolethalus syndrome
hypertelorism, microtia, facial clefting syndrome
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
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
hypoparathyroidism-retardation-dysmorphism syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
isolated growth hormone deficiency type III
JMP syndrome
Johanson-Blizzard syndrome
Joubert syndrome 10
Kahrizi syndrome
Kennedy's disease
Laron syndrome
Laurence-Moon syndrome
Lesch-Nyhan syndrome
leukocyte adhesion deficiency +
Marinesco-Sjogren syndrome
MASA syndrome
MEHMO syndrome
Meier-Gorlin syndrome +
microphthalmia with limb anomalies
mulibrey nanism
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple intestinal atresia
Nasu-Hakola disease
neonatal diabetes mellitus with congenital hypothyroidism
nephronophthisis +
Netherton syndrome
Nijmegen breakage syndrome
nonphotosensitive trichothiodystrophy
oculocutaneous albinism +
orofaciodigital syndrome V
osteoporosis-pseudoglioma syndrome
Partington syndrome
Pendred Syndrome
permanent neonatal diabetes mellitus
Perrault syndrome +
PHARC syndrome
Pierson syndrome
Prieto syndrome
progeria
prothrombin deficiency
pseudo-TORCH syndrome 1
pseudoxanthoma elasticum
rapadilino syndrome
Renpenning syndrome
rhizomelic chondrodysplasia punctata +
RIDDLE syndrome
Roberts syndrome
salt and pepper syndrome
SC phocomelia syndrome
Schwartz-Jampel syndrome 1
Seckel syndrome +
Senior-Loken syndrome
Sensenbrenner syndrome
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
sickle cell anemia
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Sjogren-Larsson syndrome
Sotos syndrome
temtamy preaxial brachydactyly syndrome
thalassemia +
thiamine-responsive megaloblastic anemia syndrome
urofacial syndrome
Usher syndrome +
UV-sensitive syndrome
Vici syndrome
Warburg micro syndrome +
Werner syndrome
Wilson-Turner syndrome
Wolcott-Rallison syndrome
X-linked cone-rod dystrophy 3
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked spermatogenic failure 1
xeroderma pigmentosum +
Child term(s)

is-a denotes an 'is-a' relationship