Term with siblings
autosomal recessive dyskeratosis congenita 2

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
adult spinal muscular atrophy
agenesis of the corpus callosum with peripheral neuropathy
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 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 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 1
autosomal recessive dyskeratosis congenita 3
autosomal recessive dyskeratosis congenita 3
autosomal recessive dyskeratosis congenita 4
autosomal recessive dyskeratosis congenita 4
autosomal recessive dyskeratosis congenita 5
autosomal recessive dyskeratosis congenita 5
autosomal recessive dyskeratosis congenita 6
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 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 Parkinson's disease 14
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 +
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
beta-ketothiolase deficiency
Bjornstad syndrome
Bloom syndrome
Bowen-Conradi syndrome
brachyolmia-amelogenesis imperfecta syndrome
branched-chain keto acid dehydrogenase kinase deficiency
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Canavan disease
cartilage-hair hypoplasia
CD3epsilon deficiency
CD3gamma deficiency
CD40 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 disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
craniolenticulosutural dysplasia
cystic fibrosis
dilated cardiomyopathy with woolly hair and keratoderma
Donnai-Barrow syndrome
Donohue syndrome
Ehlers-Danlos syndrome progeroid type
Ellis-Van Creveld syndrome
epidermodysplasia verruciformis
epidermolysis bullosa simplex with muscular dystrophy
familial erythrocytosis 2
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
fibular hypoplasia and complex brachydactyly
Fraser syndrome
Galloway-Mowat syndrome +
gangliosidosis +
Griscelli syndrome +
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 18
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 30
hereditary spastic paraplegia 32
hereditary spastic paraplegia 35
hereditary spastic paraplegia 39
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 61
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
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 +
JMP syndrome
Johanson-Blizzard syndrome
Kahrizi syndrome
Laron syndrome
Laurence-Moon syndrome
Marinesco-Sjogren syndrome
Meier-Gorlin syndrome +
microphthalmia with limb anomalies
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 15
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome 4b
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 7
mitochondrial DNA depletion syndrome 8a
mitochondrial DNA depletion syndrome 9
mitochondrial pyruvate carrier deficiency
mulibrey nanism
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple mitochondrial dysfunctions syndrome 4
multiple mitochondrial dysfunctions syndrome 5
myofibrillar myopathy 1
myofibrillar myopathy 7
myofibrillar myopathy 8
Nasu-Hakola disease
neonatal diabetes mellitus with congenital hypothyroidism
nephronophthisis +
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
Netherton syndrome
Nijmegen breakage syndrome
nonphotosensitive trichothiodystrophy
oculocutaneous albinism +
orofaciodigital syndrome V
osteoporosis-pseudoglioma syndrome
ovarian dysgenesis 1
ovarian dysgenesis 3
ovarian dysgenesis 4
ovarian dysgenesis 5
ovarian dysgenesis 6
ovarian dysgenesis 7
Pendred Syndrome
permanent neonatal diabetes mellitus
Perrault syndrome +
PHARC syndrome
Pierson syndrome
progeria
prothrombin deficiency
pseudo-TORCH syndrome 1
pseudoxanthoma elasticum
rapadilino syndrome
Revesz syndrome
rhizomelic chondrodysplasia punctata +
RIDDLE syndrome
Roberts syndrome
salt and pepper syndrome
SC phocomelia syndrome
Schwartz-Jampel syndrome 1
Seckel syndrome +
Sengers 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
spermatogenic failure 9
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
temtamy preaxial brachydactyly syndrome
thalassemia +
thiamine-responsive megaloblastic anemia syndrome
trimethylaminuria
triple-A syndrome
urofacial syndrome
Usher syndrome +
UV-sensitive syndrome
Vici syndrome
Warburg micro syndrome +
Werner syndrome
Wolcott-Rallison syndrome
X-linked dyskeratosis congenita
xeroderma pigmentosum +
Child term(s)

is-a denotes an 'is-a' relationship