Term with siblings
retinitis pigmentosa 35

2-aminoadipic 2-oxoadipic aciduria
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
abdominal obesity-metabolic syndrome +
abetalipoproteinemia
ablepharon macrostomia syndrome
aceruloplasminemia
achalasia microcephaly syndrome
acheiropody
achondrogenesis type IA
achondrogenesis type IB
achondrogenesis type II
achromatopsia 2
achromatopsia 3
achromatopsia 7
acrocapitofemoral dysplasia
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acrorenal syndrome
adermatoglyphia
adult spinal muscular atrophy
ADULT syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
agammaglobulinemia 4
agammaglobulinemia 5
AGAT deficiency
age related macular degeneration +
agenesis of the corpus callosum with peripheral neuropathy
Alexander disease
Alkuraya-Kucinskas syndrome
alopecia universalis
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alpha-2-plasmin inhibitor deficiency
Alstrom syndrome
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 hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Andersen-Tawil syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankylosing spondylitis 2
ankyrin-B-related cardiac arrhythmia
anterior segment dysgenesis 1
anterior segment dysgenesis 2
anterior segment dysgenesis 3
anterior segment dysgenesis 4
anterior segment dysgenesis 7
anterior segment dysgenesis 8
Antley-Bixler syndrome
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency
APP-related cerebral amyloid angiopathy
ARC syndrome +
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
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
asphyxiating thoracic dystrophy +
Athabaskan brainstem dysgenesis syndrome
atransferrinemia
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
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Alport syndrome
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 vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
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 pericentral pigmentary retinopathy
autosomal recessive polycystic kidney disease +
autosomal recessive progressive external ophthalmoplegia 1
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
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
autosomal recessive Whistling face syndrome
autosomal recessive woolly hair 3
Axenfeld-Rieger syndrome +
Ayme-Gripp syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome +
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
Behr syndrome
benign familial hematuria
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
beta-ketothiolase deficiency
Beukes hip dysplasia
bilateral optic nerve hypoplasia
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
blepharocheilodontic syndrome +
Bloom syndrome
blue color blindness
Bothnian type palmoplantar keratoderma
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachydactyly type A1 +
brachydactyly type A2
brachydactyly type C
brachydactyly type D
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branched-chain keto acid dehydrogenase kinase deficiency
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
Buschke-Ollendorff syndrome
C syndrome
CADASIL 1
CADASIL 2
campomelic dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Canavan disease
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney complex
Carney-Stratakis syndrome
carnitine-acylcarnitine translocase deficiency
cartilage-hair hypoplasia
CD3epsilon deficiency
CD3gamma deficiency
CEDNIK syndrome
ceft palate, cardiac defects, and intellectual disabillity
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 2H
Charcot-Marie-Tooth disease axonal type 2K
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 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
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 2X
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 recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
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 1F
Charcot-Marie-Tooth disease type 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2A2B
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2EE
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
Chediak-Higashi syndrome
cherubism
childhood onset GLUT1 deficiency syndrome 2
choreaacanthocytosis
CINCA Syndrome
classic galactosemia
cleft lip-palate-ectodermal dysplasia syndrome
cleidocranial dysplasia
Clouston syndrome
COACH syndrome
Cockayne syndrome
cocoon syndrome
CODAS syndrome
Cohen syndrome
COL4A1-related familial vascular leukoencephalopathy
cold-induced sweating syndrome +
combined D-2- and L-2-hydroxyglutaric aciduria
combined malonic and methylmalonic acidemia
combined oxidative phosphorylation deficiency 1
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 20
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 23
combined oxidative phosphorylation deficiency 24
combined oxidative phosphorylation deficiency 25
combined oxidative phosphorylation deficiency 26
combined oxidative phosphorylation deficiency 27
combined oxidative phosphorylation deficiency 28
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 30
combined oxidative phosphorylation deficiency 31
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 4
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
congenital adrenal insufficiency
congenital amegakaryocytic thrombocytopenia
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 6
congenital diarrhea 7 with exudative enteropathy
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 dyserythropoietic anemia type Ia
congenital dyserythropoietic anemia type Ib
congenital dyserythropoietic anemia type II
congenital dyserythropoietic anemia type IV
congenital generalized lipodystrophy +
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
congenital hypotrichosis with juvenile macular dystrophy
congenital lactase deficiency
congenital leptin deficiency
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy merosin-positive
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 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
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 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
congenital sucrase-isomaltase deficiency
congenital vertical talus
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
cortical dysplasia-focal epilepsy syndrome
corticosterone methyloxidase deficiency 1
cortisone reductase deficiency 1
cortisone reductase deficiency 2
Costello syndrome
Cowden syndrome
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
craniometaphyseal dysplasia
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy
Culler-Jones syndrome
Currarino syndrome
cystathioninuria
cystic fibrosis
cystinosis
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
D-glyceric aciduria
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
Denys-Drash syndrome
dermatopathia pigmentosa reticularis
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
diastrophic dysplasia
diffuse cystic renal dysplasia
dihydropyrimidinase deficiency
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 1X
dilated cardiomyopathy 1Y
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
distal arthrogryposis type 10
distal arthrogryposis type 1A
distal arthrogryposis type 1B
distal arthrogryposis type 2A
distal arthrogryposis type 2B1
distal arthrogryposis type 2B2
distal arthrogryposis type 2B3
distal arthrogryposis type 3
distal arthrogryposis type 5
distal arthrogryposis type 5D
distal arthrogryposis type 7
distal myopathy 1
DNA ligase IV deficiency
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
dominant pericentral pigmentary retinopathy
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
Dubowitz syndrome
Dyggve-Melchior-Clausen disease +
dysplastic nevus syndrome
dystonia 12
dystonia 16
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 27
dystonia 5
dystonia 5
dystonia 9
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
EAST syndrome
ectodermal dysplasia 10A
ectodermal dysplasia 10B
ectodermal dysplasia 11A
ectodermal dysplasia 11B
ectodermal dysplasia 12
ectodermal dysplasia 13
ectodermal dysplasia 14
ectodermal dysplasia 15
ectodermal dysplasia 4
ectodermal dysplasia 5
ectodermal dysplasia 6
ectodermal dysplasia 7
ectodermal dysplasia 8
ectodermal dysplasia 9
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ectopia lentis with ectopia of pupil
EEC syndrome +
Ehlers-Danlos syndrome progeroid type
Ellis-Van Creveld syndrome
endocrine-cerebro-osteodysplasia syndrome
enhanced S-cone syndrome
enterokinase deficiency
epidermodysplasia verruciformis
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 simplex with muscular dystrophy
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
essential fructosuria
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
factor XII deficiency
familial adenomatous polyposis 1
familial adenomatous polyposis 2
familial adenomatous polyposis 3
familial adenomatous polyposis 4
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 5
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial apolipoprotein C-II deficiency
familial benign fleck retina
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 2
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial GPIHBP1 deficiency
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hepatic adenoma
familial hypertryptophanemia
familial hypocalciuric hypercalcemia +
familial isolated trichomegaly
familial lipase maturation factor 1 deficiency
familial lipoprotein lipase deficiency
familial male-limited precocious puberty
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 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 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 C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia complementation group L
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 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
fatal infantile hypertonic myofibrillar myopathy
Fazio-Londe disease
Feingold syndrome
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
fibrodysplasia ossificans progressiva
fibular hypoplasia and complex brachydactyly
Finnish type amyloidosis
Floating-Harbor syndrome
focal nonepidermolytic palmoplantar keratoderma 1
focal nonepidermolytic palmoplantar keratoderma 2
focal or diffuse nonepidermolytic palmoplantar keratoderma
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
Fraser syndrome +
Frasier syndrome
Fuhrmann syndrome
fumarase deficiency
galactose epimerase deficiency
Galloway-Mowat syndrome +
gamma-glutamyl transpeptidase deficiency
gangliosidosis +
geroderma osteodysplasticum
giant axonal neuropathy 1
giant axonal neuropathy 2
Gitelman syndrome
glucocorticoid deficiency 1
glutamate formiminotransferase deficiency
glutamate-cysteine ligase deficiency
glutaric acidemia I
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
Gordon Holmes syndrome
GRACILE syndrome
granular corneal dystrophy +
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome +
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Guttmacher syndrome
Hailey-Hailey disease
Hajdu-Cheney syndrome
hand-foot-genital syndrome
hawkinsinuria
Heimler syndrome 1
Heimler syndrome 2
Heinz body anemia
hereditary arterial and articular multiple calcification syndrome
hereditary breast ovarian cancer syndrome
hereditary folate malabsorption
hereditary hemorrhagic telangiectasia
hereditary lymphedema IA
hereditary lymphedema IC
hereditary lymphedema ID
hereditary mixed polyposis syndrome 2
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 10
hereditary spastic paraplegia 11
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 17
hereditary spastic paraplegia 18
hereditary spastic paraplegia 19
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 29
hereditary spastic paraplegia 30
hereditary spastic paraplegia 31
hereditary spastic paraplegia 32
hereditary spastic paraplegia 33
hereditary spastic paraplegia 35
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 39
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
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 6
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 72
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 8
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
hereditary spherocytosis type 1
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 3
hereditary spherocytosis type 4
hereditary spherocytosis type 5
Hermansky-Pudlak syndrome +
high molecular weight kininogen deficiency
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 7
holoprosencephaly 9
Holt-Oram syndrome
hyaline fibromatosis syndrome
hydrolethalus syndrome +
hyper IgE recurrent infection syndrome 1
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hyperalphalipoproteinemia 1
hyperekplexia 1
hyperekplexia 1
hyperekplexia 2
hyperekplexia 3
hyperekplexia 3
hyperekplexia 4
hyperferritinemia-cataract syndrome
hyperphosphatemic familial tumoral calcinosis
hyperprolinemia type 1
hyperprolinemia type 2
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypochondroplasia
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 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
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 6
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
hypoplastic or aplastic tibia with polydactyly
hypotrichosis 1
hypotrichosis 10
hypotrichosis 11
hypotrichosis 12
hypotrichosis 13
hypotrichosis 2
hypotrichosis 3
hypotrichosis 4
hypotrichosis 5
hypotrichosis 6
hypotrichosis 7
hypotrichosis 8
hypotrichosis 9
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis vulgaris
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin alpha deficiency
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
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile or early childhood epileptic encephalopathy 1
infantile or early childhood epileptic encephalopathy 2
inflammatory bowel disease 21
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory bowel disease 3
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability-severe speech delay-mild dysmorphism syndrome
intermediate spinal muscular atrophy
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 7
isolated microphthalmia 8
isolated sulfite oxidase deficiency
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
IVIC syndrome
Jackson-Weiss syndrome
Jalili syndrome
Jansen's metaphyseal chondrodysplasia
JMP syndrome
Johanson-Blizzard syndrome
junctional epidermolysis bullosa Herlitz type
junctional epidermolysis bullosa non-Herlitz type
junctional epidermolysis bullosa with pyloric atresia
juvenile glaucoma
juvenile polyposis syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kahrizi syndrome
karyomegalic interstitial nephritis
Kaufman oculocerebrofacial syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Klippel-Feil syndrome 1
Klippel-Feil syndrome 2
Klippel-Feil syndrome 3
Klippel-Feil syndrome 4
Kniest dysplasia
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
Kufor-Rakeb syndrome
LADD syndrome
Lafora disease
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
late-adult onset retinitis pigmentosa
lateral meningocele syndrome
lattice corneal dystrophy
Laurence-Moon syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
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 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Lenz-Majewski hyperostotic dwarfism
LEOPARD syndrome +
lethal congenital contracture syndrome +
lethal restrictive dermopathy
leukocyte adhesion deficiency +
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 4
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
lymphedema-distichiasis syndrome
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
Martsolf syndrome
maturity-onset diabetes of the young +
McKusick-Kaufman syndrome
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
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
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 6
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
melanoma and neural system tumor syndrome
metachondromatosis
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
metatropic dysplasia
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microphthalmia with limb anomalies
microvillus inclusion disease
Miller-Dieker lissencephaly syndrome
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12a
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
Miura type epiphyseal chondrodysplasia
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
monilethrix
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
Mowat-Wilson syndrome
Muckle-Wells syndrome
mucopolysaccharidosis Ih
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
mucosulfatidosis
Muenke Syndrome
mulibrey nanism
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
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 4
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia 7
multiple epiphyseal dysplasia with myopia and deafness
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
muscular dystrophy-dystroglycanopathy +
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
myoclonic dystonia 11
myoclonic dystonia 15
myoclonic dystonia 26
myofibrillar myopathy 1
myofibrillar myopathy 1
myofibrillar myopathy 2
myofibrillar myopathy 3
myofibrillar myopathy 4
myofibrillar myopathy 5
myofibrillar myopathy 6
myofibrillar myopathy 7
myofibrillar myopathy 8
myopathy with extrapyramidal signs
Naegeli-Franceschetti-Jadassohn syndrome
nail-patella syndrome
Nasu-Hakola disease
Native American myopathy
nemaline myopathy 1
nemaline myopathy 1
nemaline myopathy 10
nemaline myopathy 11
nemaline myopathy 2
nemaline myopathy 3
nemaline myopathy 4
nemaline myopathy 5
nemaline myopathy 6
nemaline myopathy 7
nemaline myopathy 8
nemaline myopathy 9
neonatal diabetes mellitus with congenital hypothyroidism
nephronophthisis +
nephrotic syndrome type 1
nephrotic syndrome type 10
nephrotic syndrome type 11
nephrotic syndrome type 12
nephrotic syndrome type 13
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
nephrotic syndrome type 17
nephrotic syndrome type 18
nephrotic syndrome type 19
nephrotic syndrome type 2
nephrotic syndrome type 3
nephrotic syndrome type 4
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
Netherton syndrome
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
neurodevelopmental disorder with midbrain and hindbrain malformations
neurofibromatosis +
neurofibromatosis-Noonan syndrome
neurogenic arthrogryposis multiplex congenita
neurogenic scapuloperoneal syndrome Kaeser type
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
Nezelof syndrome
NGLY1-deficiency
Nijmegen breakage syndrome
nonphotosensitive trichothiodystrophy
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Norman-Roberts syndrome
oblique facial clefting 1
ocular albinism with sensorineural deafness
oculocutaneous albinism +
Oguchi disease-1
Oguchi disease-2
Oliver-McFarlane syndrome
optic atrophy 1
optic atrophy 10
optic atrophy 11
optic atrophy 3
optic atrophy 4
optic atrophy 5
optic atrophy 6
optic atrophy 7
optic atrophy 8
optic atrophy 9
optic disc anomalies with retinal and/or macular dystrophy
orofacial cleft 1
orofacial cleft 13
orofacial cleft 14
orofacial cleft 6
orofacial cleft 7
orofaciodigital syndrome V
osteogenesis imperfecta type 1
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
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 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
osteoglophonic dysplasia
osteoporosis-pseudoglioma syndrome
otulipenia
ovarian dysgenesis 1
ovarian dysgenesis 3
ovarian dysgenesis 4
ovarian dysgenesis 5
ovarian dysgenesis 6
ovarian dysgenesis 7
ovarian dysgenesis 8
overhydrated hereditary stomatocytosis
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pantothenate kinase-associated neurodegeneration
PAPA syndrome
Papillon-Lefevre disease
paraganglioma
paramyotonia congenita of Von Eulenburg
parastremmatic dwarfism
Parkinson's disease 1
Parkinson's disease 14
Parkinson's disease 15
Parkinson's disease 17
Parkinson's disease 19A
Parkinson's disease 2
Parkinson's disease 20
Parkinson's disease 21
Parkinson's disease 22
Parkinson's disease 23
Parkinson's disease 3
Parkinson's disease 4
Parkinson's disease 6
Parkinson's disease 7
Parkinson's disease 8
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
PCWH syndrome
Pelger-Huet anomaly
Pendred Syndrome
pentosuria
permanent neonatal diabetes mellitus
permanent neonatal diabetes mellitus
peroxisome biogenesis disorder 2B
Perrault syndrome +
Perry syndrome
Pfeiffer syndrome
PHARC syndrome
photosensitive trichothiodystrophy
piebaldism
Pierson syndrome
pigmented paravenous chorioretinal atrophy
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
plasminogen deficiency type I
poikiloderma with neutropenia
polycystic liver disease
popliteal pterygium syndrome
postaxial acrofacial dysostosis
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
primary autosomal dominant microcephaly 18
primary autosomal recessive microcephaly +
primary failure of tooth eruption
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 myoclonus epilepsy 10
progressive myoclonus epilepsy 1A
progressive myoclonus epilepsy 1B
progressive myoclonus epilepsy 3
progressive myoclonus epilepsy 4
progressive myoclonus epilepsy 6
progressive myoclonus epilepsy 7
progressive myoclonus epilepsy 8
progressive myoclonus epilepsy 9
progressive osseous heteroplasia
progressive pseudorheumatoid arthropathy of childhood
prolidase deficiency
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
prothrombin deficiency
proximal symphalangism
prune belly syndrome
pseudo-TORCH syndrome 1
pseudoachondroplasia
pseudoxanthoma elasticum
punctate palmoplantar keratoderma type III
purine nucleoside phosphorylase deficiency
pycnodysostosis
pyruvate kinase deficiency of red cells
rapadilino syndrome
Rapp-Hodgkin syndrome
recessive dystrophic epidermolysis bullosa
renal coloboma syndrome
reticular dysgenesis
retinal arterial tortuosity
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa 1
retinitis pigmentosa 1
retinitis pigmentosa 1
retinitis pigmentosa 10
retinitis pigmentosa 10
retinitis pigmentosa 11
retinitis pigmentosa 11
retinitis pigmentosa 12
retinitis pigmentosa 12
retinitis pigmentosa 13
retinitis pigmentosa 13
retinitis pigmentosa 14
retinitis pigmentosa 14
retinitis pigmentosa 17
retinitis pigmentosa 17
retinitis pigmentosa 18
retinitis pigmentosa 18
retinitis pigmentosa 19
retinitis pigmentosa 19
retinitis pigmentosa 2
retinitis pigmentosa 20
retinitis pigmentosa 20
retinitis pigmentosa 22
retinitis pigmentosa 23
retinitis pigmentosa 24
retinitis pigmentosa 25
retinitis pigmentosa 25
retinitis pigmentosa 26
retinitis pigmentosa 26
retinitis pigmentosa 27
retinitis pigmentosa 27
retinitis pigmentosa 28
retinitis pigmentosa 28
retinitis pigmentosa 29
retinitis pigmentosa 29
retinitis pigmentosa 3
retinitis pigmentosa 30
retinitis pigmentosa 31
retinitis pigmentosa 32
retinitis pigmentosa 33
retinitis pigmentosa 33
retinitis pigmentosa 34
retinitis pigmentosa 36
retinitis pigmentosa 37
retinitis pigmentosa 37
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 38
retinitis pigmentosa 39
retinitis pigmentosa 4
retinitis pigmentosa 4
retinitis pigmentosa 4
retinitis pigmentosa 40
retinitis pigmentosa 40
retinitis pigmentosa 41
retinitis pigmentosa 41
retinitis pigmentosa 42
retinitis pigmentosa 42
retinitis pigmentosa 43
retinitis pigmentosa 44
retinitis pigmentosa 45
retinitis pigmentosa 45
retinitis pigmentosa 46
retinitis pigmentosa 47
retinitis pigmentosa 48
retinitis pigmentosa 49
retinitis pigmentosa 50
retinitis pigmentosa 50
retinitis pigmentosa 51
retinitis pigmentosa 54
retinitis pigmentosa 55
retinitis pigmentosa 56
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 57
retinitis pigmentosa 58
retinitis pigmentosa 59
retinitis pigmentosa 59
retinitis pigmentosa 6
retinitis pigmentosa 60
retinitis pigmentosa 60
retinitis pigmentosa 61
retinitis pigmentosa 62
retinitis pigmentosa 62
retinitis pigmentosa 63
retinitis pigmentosa 63
retinitis pigmentosa 66
retinitis pigmentosa 67
retinitis pigmentosa 68
retinitis pigmentosa 68
retinitis pigmentosa 69
retinitis pigmentosa 69
retinitis pigmentosa 7
retinitis pigmentosa 7
retinitis pigmentosa 7
retinitis pigmentosa 70
retinitis pigmentosa 70
retinitis pigmentosa 71
retinitis pigmentosa 71
retinitis pigmentosa 72
retinitis pigmentosa 72
retinitis pigmentosa 73
retinitis pigmentosa 73
retinitis pigmentosa 74
retinitis pigmentosa 74
retinitis pigmentosa 75
retinitis pigmentosa 75
retinitis pigmentosa 77
retinitis pigmentosa 77
retinitis pigmentosa 81
retinitis pigmentosa 9
retinitis pigmentosa 9
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa Y-linked
retinitis pigmentosa-deafness syndrome
Revesz syndrome
rhizomelic chondrodysplasia punctata +
RIDDLE syndrome
right atrial isomerism
rigid spine muscular dystrophy 1
ring dermoid of cornea
rippling muscle disease 2
Ritscher-Schinzel syndrome 1
Roberts syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
SADDAN
Saethre-Chotzen syndrome
Saldino-Noonan syndrome
salt and pepper syndrome
Saul-Wilson syndrome
SC phocomelia syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schimke immuno-osseous dysplasia
schizophrenia 1
schizophrenia 10
schizophrenia 11
schizophrenia 12
schizophrenia 15
schizophrenia 2
schizophrenia 3
schizophrenia 4
schizophrenia 5
schizophrenia 6
schizophrenia 7
schizophrenia 8
Schopf-Schulz-Passarge syndrome
Schwartz-Jampel syndrome 1
sclerosteosis 1
sclerosteosis 2
sclerosteosis 2
Seckel syndrome +
selective pituitary thyroid hormone resistance
Sengers syndrome
Senior-Loken syndrome
Sensenbrenner syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
sepiapterin reductase deficiency
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
severe congenital neutropenia 1
SHORT syndrome
sickle cell anemia
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silverman-Handmaker type dyssegmental dysplasia
sitosterolemia
Sjogren-Larsson syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
SOST-related sclerosing bone dysplasia
Sotos syndrome
speech-language disorder-1
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 2
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
spermatogenic failure 9
spinal muscular atrophy with progressive myoclonic epilepsy
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 4
split hand-foot malformation 6
SPOAN syndrome
spondylocarpotarsal synostosis syndrome
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Maroteaux type
spondylometaphyseal dysplasia Kozlowski type
steatocystoma multiplex
Stickler syndrome
stiff skin syndrome
STING-associated vasculopathy with onset in infancy
Stormorken syndrome
Sweeney-Cox syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
tarsal-carpal coalition syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
thalassemia +
thiamine-responsive megaloblastic anemia syndrome
Thiel-Behnke corneal dystrophy
tibial muscular dystrophy
Tietz syndrome
Timothy syndrome
torsion dystonia 1
torsion dystonia 13
torsion dystonia 17
torsion dystonia 2
torsion dystonia 4
torsion dystonia 6
torsion dystonia 7
torsion dystonia with onset in infancy
Townes-Brocks syndrome
transient bullous dermolysis of the newborn
transthyretin amyloidosis
Treacher Collins syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
trimethylaminuria
triple-A syndrome
Troyer syndrome
tuberous sclerosis +
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy
ulnar-mammary syndrome
urofacial syndrome
Usher syndrome +
UV-sensitive syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van den Ende-Gupta syndrome
Van Maldergem syndrome +
ventriculomegaly - cystic kidney disease
Vici syndrome
Vohwinkel syndrome
Waardenburg's syndrome +
Walker-Warburg syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Werner syndrome
Weyers acrofacial dysostosis
WHIM syndrome
Wolcott-Rallison syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Worth's syndrome
xeroderma pigmentosum +
XFE progeroid syndrome
Yunis-Varon syndrome
Child term(s)

is-a denotes an 'is-a' relationship