Term with siblings
neonatal diabetes mellitus with congenital hypothyroidism

3-M syndrome
3-Methylcrotonyl-CoA carboxylase deficiency +
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3MC syndrome +
ABCD syndrome
abetalipoproteinemia
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
AGAT deficiency
agenesis of the corpus callosum with peripheral neuropathy
alopecia universalis
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
atransferrinemia
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
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 hereditary motor neuronopathy +
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 Emery-Dreifuss muscular dystrophy 3
autosomal recessive hyaline body myopathy
autosomal recessive hypophosphatemic rickets
autosomal recessive isolated ectopia lentis 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 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
Boucher-Neuhauser 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
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
cocoon syndrome
CODAS syndrome
cold-induced sweating syndrome +
combined malonic and methylmalonic acidemia
congenital disorder of glycosylation Ia
congenital disorder of glycosylation Iaa
congenital disorder of glycosylation Ib
congenital disorder of glycosylation Ic
congenital disorder of glycosylation Id
congenital disorder of glycosylation Ie
congenital disorder of glycosylation If
congenital disorder of glycosylation Ig
congenital disorder of glycosylation Ih
congenital disorder of glycosylation Ii
congenital disorder of glycosylation Ij
congenital disorder of glycosylation Ik
congenital disorder of glycosylation Il
congenital disorder of glycosylation Im
congenital disorder of glycosylation In
congenital disorder of glycosylation Ip
congenital disorder of glycosylation Iq
congenital disorder of glycosylation Ir
congenital disorder of glycosylation It
congenital disorder of glycosylation Iu
congenital disorder of glycosylation Iw
congenital disorder of glycosylation Ix
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
congenital generalized lipodystrophy type 4
congenital hypotrichosis with juvenile macular dystrophy
congenital muscular dystrophy-dystroglycanopathy type A +
craniolenticulosutural dysplasia
cystathioninuria
cystic fibrosis
cystinosis
Donnai-Barrow syndrome
Donohue syndrome
dystonia 16
dystonia 27
dystonia 5
EAST syndrome
Ehlers-Danlos syndrome progeroid type
Ellis-Van Creveld syndrome
endocrine-cerebro-osteodysplasia syndrome
epidermodysplasia verruciformis
epidermolysis bullosa simplex with muscular dystrophy
factor XII deficiency
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
fumarase deficiency
Galloway-Mowat syndrome +
gamma-glutamyl transpeptidase deficiency
gangliosidosis +
geroderma osteodysplasticum
glutaric acidemia I
Goldberg-Shprintzen syndrome
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 +
histiocytosis-lymphadenopathy plus syndrome
hydrolethalus syndrome
hyperekplexia 1
hyperekplexia 2
hyperekplexia 3
hyperekplexia 4
hyperprolinemia type 1
hyperprolinemia type 2
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
hypotrichosis 10
hypotrichosis 6
hypotrichosis 7
hypotrichosis 8
hypotrichosis 9
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
isolated sulfite oxidase deficiency
JMP syndrome
Johanson-Blizzard syndrome
Kahrizi syndrome
Laron syndrome
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
Laurence-Moon syndrome
lethal congenital contracture syndrome +
leukocyte adhesion deficiency +
Marinesco-Sjogren syndrome
McKusick-Kaufman syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
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 8b
mitochondrial DNA depletion syndrome 9
mitochondrial pyruvate carrier deficiency
mitochondrial trifunctional protein deficiency
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mucosulfatidosis
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
multiple mitochondrial dysfunctions syndrome 6
myofibrillar myopathy 1
myofibrillar myopathy 7
myofibrillar myopathy 8
Nasu-Hakola disease
nemaline myopathy 1
nemaline myopathy 10
nemaline myopathy 11
nemaline myopathy 2
nemaline myopathy 3
nemaline myopathy 5
nemaline myopathy 7
nemaline myopathy 8
nemaline myopathy 9
nephronophthisis +
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
Netherton syndrome
neurodevelopmental disorder with midbrain and hindbrain malformations
Nezelof syndrome
NGLY1-deficiency
Nijmegen breakage syndrome
nonphotosensitive trichothiodystrophy
Noonan syndrome 2
oculocutaneous albinism +
Oguchi disease-1
Oguchi disease-2
Oliver-McFarlane syndrome
orofaciodigital syndrome V
osteoporosis-pseudoglioma syndrome
otulipenia
ovarian dysgenesis 1
ovarian dysgenesis 3
ovarian dysgenesis 4
ovarian dysgenesis 5
ovarian dysgenesis 6
ovarian dysgenesis 7
Papillon-Lefevre disease
Parkinson's disease 14
Parkinson's disease 15
Parkinson's disease 19A
Parkinson's disease 2
Parkinson's disease 20
Parkinson's disease 23
Parkinson's disease 6
Parkinson's disease 7
Pendred Syndrome
pentosuria
permanent neonatal diabetes mellitus
permanent neonatal diabetes mellitus
Perrault syndrome +
PHARC syndrome
Pierson syndrome
postaxial acrofacial dysostosis
progeria
prothrombin deficiency
prune belly syndrome
pseudo-TORCH syndrome 1
pseudoxanthoma elasticum
pycnodysostosis
rapadilino syndrome
retinitis pigmentosa 1
retinitis pigmentosa 12
retinitis pigmentosa 14
retinitis pigmentosa 19
retinitis pigmentosa 20
retinitis pigmentosa 25
retinitis pigmentosa 26
retinitis pigmentosa 28
retinitis pigmentosa 29
retinitis pigmentosa 35
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 4
retinitis pigmentosa 40
retinitis pigmentosa 41
retinitis pigmentosa 45
retinitis pigmentosa 50
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 59
retinitis pigmentosa 62
retinitis pigmentosa 68
retinitis pigmentosa 69
retinitis pigmentosa 7
retinitis pigmentosa 71
retinitis pigmentosa 72
retinitis pigmentosa 73
retinitis pigmentosa 74
retinitis pigmentosa 75
retinitis pigmentosa 77
retinitis pigmentosa with or without situs inversus
rhizomelic chondrodysplasia punctata +
RIDDLE syndrome
right atrial isomerism
Ritscher-Schinzel syndrome 1
Roberts syndrome
Ruijs-Aalfs syndrome
Saldino-Noonan syndrome
salt and pepper syndrome
SC phocomelia syndrome
Schwartz-Jampel syndrome 1
sclerosteosis 1
sclerosteosis 2
Seckel syndrome +
Sengers syndrome
Senior-Loken syndrome
Sensenbrenner syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
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
sitosterolemia
Sjogren-Larsson syndrome
Sotos syndrome
spermatogenic failure 9
SPOAN syndrome
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
temtamy preaxial brachydactyly syndrome
thalassemia +
thiamine-responsive megaloblastic anemia syndrome
torsion dystonia 17
torsion dystonia 2
transient neonatal diabetes mellitus
trimethylaminuria
triple-A syndrome
Troyer syndrome
urofacial syndrome
Usher syndrome +
UV-sensitive syndrome
Vici syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Werner syndrome
Wolcott-Rallison syndrome
Wolfram syndrome +
xeroderma pigmentosum +
XFE progeroid syndrome
Yunis-Varon syndrome
Child term(s)

is-a denotes an 'is-a' relationship