Parent term(s)
Term with siblings
3-methylglutaconic aciduria type 7a
3p deletion syndrome
46,XX sex reversal 2
46,XX sex reversal 4
46,XX sex reversal 5
46,XY sex reversal 10
46,XY sex reversal 3
46,XY sex reversal 6
46,XY sex reversal 9
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
achondrogenesis type II
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromelic frontonasal dysostosis
adermatoglyphia
ADULT syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
agammaglobulinemia 10
agammaglobulinemia 5
agammaglobulinemia 8A
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
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
amyotrophic neuralgia
Andersen-Tawil syndrome
aniridia 1
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankylosing spondylitis 2
ankyrin-B-related cardiac arrhythmia
anterior segment dysgenesis 1
anterior segment dysgenesis 3
anterior segment dysgenesis 4
antithrombin III deficiency
Antley-Bixler syndrome without disordered steroidogenesis
aortic valve disease 1
aortic valve disease 2
aortic valve disease 3
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 14
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
atrial standstill 1
autoimmune interstitial lung, joint, and kidney disease
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
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 familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant intellectual developmental disorder +
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant microcephaly
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
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 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 progressive external ophthalmoplegia with mitochondrial DNA deletions 6
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 severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant spondyloepiphyseal dysplasia tarda
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
Axenfeld-Rieger syndrome +
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
bent bone dysplasia syndrome 1
Beukes hip dysplasia
bilateral optic nerve hypoplasia
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
blue color blindness
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
brachycephaly, trichomegaly, and developmental delay
brachydactyly type A1 +
brachydactyly type A2
brachydactyly type C
brachydactyly type D
brachydactyly-syndactyly syndrome
brain small vessel disease 1
brain small vessel disease 2
branchiooculofacial syndrome
branchiootorenal syndrome +
bronchiectasis 1
bronchiectasis 2
bronchiectasis 3
Brooke-Spiegler 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
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney complex
Carney-Stratakis syndrome
carpal tunnel syndrome 1
carpal tunnel syndrome 2
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types
cataract 12 multiple types
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 24
cataract 29
cataract 3 multiple types
cataract 30
cataract 31 multiple types
cataract 32 multiple types
cataract 33
cataract 37
cataract 39 multiple types
cataract 4 multiple types
cataract 41
cataract 42
cataract 43
cataract 47
cataract 5 multiple types
cataract 6 multiple types
cataract 7
cataract 8 multiple types
cataract 9 multiple types
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
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 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
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 neurodegeneration with brain atrophy
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36.33 duplication syndrome
chromosome 5q12 deletion syndrome
CINCA Syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleidocranial dysplasia
Clouston syndrome
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
complex cortical dysplasia with other brain malformations +
cone-rod dystrophy 24
congenital adrenal insufficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital diarrhea 6
congenital dyserythropoietic anemia type IV
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital megabladder
congenital muscular dystrophy due to LMNA mutation
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 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
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 2A
congenital myasthenic syndrome 2C
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 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital myopathy 15
congenital myopathy 16
congenital myopathy 18
congenital myopathy 1A
congenital myopathy 2C
congenital myopathy 4A +
congenital myopathy 6
congenital myopathy 8
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
congenital nystagmus 2
congenital nystagmus 3
congenital nystagmus 7
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 6
cortisone reductase deficiency 2
Costello syndrome
craniofacial-deafness-hand syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy
Culler-Jones syndrome
Currarino syndrome
D-2-hydroxyglutaric aciduria 2
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
delta beta-thalassemia
dentinogenesis imperfecta
Denys-Drash syndrome
dermatopathia pigmentosa reticularis
DeSanto-Shinawi syndrome
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31A
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
diaphyseal medullary stenosis with malignant fibrous histiocytoma
DICER1 syndrome
diffuse cystic renal dysplasia
DiGeorge syndrome
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 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
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 7
distal myopathy 1
distal myopathy 3
distal myopathy Tateyama type
distal myopathy with rimmed vacuoles
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
dopa-responsive dystonia
Doyne honeycomb retinal dystrophy
Dravet syndrome
Duane-radial ray syndrome
dysplastic nevus syndrome
dystonia 12
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 28, childhood-onset
dystonia 30
dystonia 33
dystonia 9
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
early-onset epilepsy 2
early-onset epilepsy 3
ectodermal dysplasia 10A
ectodermal dysplasia 11A
ectodermal dysplasia 12
ectodermal dysplasia and immunodeficiency 2
EEC syndrome +
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
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
epidermolytic hyperkeratosis 1
epidermolytic palmoplantar keratoderma 1
epidermolytic palmoplantar keratoderma 2
episodic ataxia type 9
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
essential tremor 1
essential tremor 2
essential tremor 4
essential tremor 5
essential tremor 6
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial adenomatous polyposis 1
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial Behcet-like autoinflammatory syndrome
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial focal epilepsy with variable foci +
familial gestational hyperthyroidism
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia +
familial male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial renal glucosuria
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
familial visceral amyloidosis
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Feingold syndrome
fibrochondrogenesis 2
fibrodysplasia ossificans progressiva
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 7
focal segmental glomerulosclerosis 8
foveal hypoplasia 1
Frasier syndrome
frontometaphyseal dysplasia 2
geleophysic dysplasia 2
geleophysic dysplasia 3
giant axonal neuropathy 2
gingival fibromatosis 5
glomangioma +
glucose transporter type 1 deficiency syndrome 2
gnathodiaphyseal dysplasia
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hailey-Hailey disease
Hajdu-Cheney syndrome
hand-foot-genital syndrome
Harel-Yoon syndrome
hawkinsinuria
Heinz body anemia
heparin cofactor II deficiency
hereditary angioedema +
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
hereditary hemorrhagic telangiectasia
hereditary lymphedema IA
hereditary lymphedema IB
hereditary lymphedema IC
hereditary lymphedema ID
hereditary lymphedema II
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 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 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 88
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 12
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 7
holoprosencephaly 9
Holt-Oram syndrome
hot water epilepsy 1
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
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 6
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
hypotrichosis 1
hypotrichosis 11
hypotrichosis 12
hypotrichosis 13
hypotrichosis 2
hypotrichosis 3
hypotrichosis 4
hypotrichosis 5
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis vulgaris
idiopathic pulmonary fibrosis
immunodeficiency 11B
immunodeficiency 13
immunodeficiency 14
immunodeficiency 15A
immunodeficiency 21
immunodeficiency 27B
immunodeficiency 31A
immunodeficiency 31C
immunodeficiency 32A
immunodeficiency 36
immunodeficiency 39
immunodeficiency 49
immunodeficiency 60
immunodeficiency 70
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
inclusion body myopathy and brain white matter abnormalities
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-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
intellectual disability-severe speech delay-mild dysmorphism syndrome
interstitial lung disease 1
interstitial lung disease 2
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
isolated mitochondrial myopathy
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
IVIC syndrome
Jansen's metaphyseal chondrodysplasia
juvenile amyotrophic lateral sclerosis type 27
juvenile glaucoma
juvenile polyposis syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kenny-Caffey syndrome type 2
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
King Denborough syndrome
KINSSHIP syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Klippel-Feil syndrome 1
Klippel-Feil syndrome 3
Kniest dysplasia
Koolen de Vries syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Larsen syndrome
lateral meningocele syndrome
lattice corneal dystrophy
Laurin-Sandrow syndrome
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Legius syndrome
Lenz-Majewski hyperostotic dwarfism
leucine-sensitive hypoglycemia of infancy
Li-Fraumeni syndrome +
lissencephaly 1
lissencephaly 10
lissencephaly 3
lissencephaly 9 with complex brainstem malformation
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 16
long QT syndrome 2
long QT syndrome 3
long QT syndrome 4
long QT syndrome 5
long QT syndrome 6
long QT syndrome 8
long QT syndrome 9
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia
mandibulofacial dysostosis, Guion-Almeida type
Marsili syndrome
maturity-onset diabetes of the young +
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B
Meier-Gorlin syndrome 6
melanoma and neural system tumor syndrome
metachondromatosis
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
metatropic dysplasia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Miller-Dieker lissencephaly syndrome
Mitchell syndrome
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Moebius syndrome
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
multiple synostoses syndrome +
multiple types of congenital heart defects 6
myoclonic dystonia 11
myoclonic dystonia 15
myoclonic dystonia 26
myoclonic dystonia 34
myoclonic-atonic epilepsy
myofibrillar myopathy 1
myofibrillar myopathy 2
myofibrillar myopathy 3
myofibrillar myopathy 4
myofibrillar myopathy 5
myofibrillar myopathy 6
Naegeli-Franceschetti-Jadassohn syndrome
nail-patella syndrome
nemaline myopathy 4
nemaline myopathy 5C
nemaline myopathy 6
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
neurodevelopmental disorder with involuntary movements
neurofibromatosis +
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus
neuronal ceroid lipofuscinosis 4
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome 1
NFIA-related disorder
Nicolaides-Baraitser syndrome
nonautoimmune hyperthyroidism
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 11
Noonan syndrome 12
Noonan syndrome 13
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
ocular albinism with sensorineural deafness
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
omodysplasia 2
optic atrophy 1
optic atrophy 10
optic atrophy 12
optic atrophy 3
optic atrophy 4
optic atrophy 5
optic atrophy 8
orofacial cleft 1
orofacial cleft 13
orofacial cleft 6
orofaciodigital syndrome X
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteoglophonic dysplasia
otosclerosis +
otospondylomegaepiphyseal dysplasia, autosomal dominant
ovarian dysgenesis 8
overhydrated hereditary stomatocytosis
pachyonychia congenita
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 6
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PAPA syndrome
paraganglioma
paramyotonia congenita of Von Eulenburg
parastremmatic dwarfism
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 extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
PCWH syndrome
Pelger-Huet anomaly
permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 4B
Perry syndrome
Pfeiffer syndrome
piebaldism
pigmented paravenous chorioretinal atrophy
Pitt-Hopkins syndrome
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 9
polycystic liver disease +
popliteal pterygium syndrome
posterior amorphous corneal dystrophy
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
preaxial polydactyly II
preaxial polydactyly type IV
primary autosomal dominant microcephaly 18
primary ciliary dyskinesia 43
primary failure of tooth eruption
primary ovarian insufficiency 11
primary ovarian insufficiency 16
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary pigmented nodular adrenocortical disease 1
primary pigmented nodular adrenocortical disease 2
primary pigmented nodular adrenocortical disease 4
progeria
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive osseous heteroplasia
protein C deficiency +
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
proximal symphalangism +
pseudoachondroplasia
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Rapp-Hodgkin syndrome
renal coloboma syndrome
renal hypomagnesemia 7, with or without dilated cardiomyopathy
retinal arterial tortuosity
retinal cone dystrophy 1
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
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 83
retinitis pigmentosa 87
retinitis pigmentosa 89
retinitis pigmentosa 9
retinitis pigmentosa-deafness syndrome
Revesz syndrome
ring dermoid of cornea
rippling muscle disease 2
Rubinstein-Taybi syndrome
SADDAN
Saethre-Chotzen syndrome
Saul-Wilson syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schinzel Giedion 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
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
schwannomatosis +
sclerosteosis 2
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
severe congenital neutropenia 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
SHORT syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
Sotos syndrome 1
Sotos syndrome 2
spastic ataxia 1
spastic ataxia 7
speech-language disorder-1
spermatogenic failure 10
spermatogenic failure 11
spermatogenic failure 12
spermatogenic failure 2
spermatogenic failure 3
spermatogenic failure 32
spermatogenic failure 36
spermatogenic failure 4
spermatogenic failure 8
spinal muscular atrophy with lower extremity predominant +
spinal muscular atrophy, Jokela type
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondyloperipheral dysplasia
steatocystoma multiplex
Stickler syndrome 1
Stickler syndrome 2
stiff skin syndrome
STING-associated vasculopathy with onset in infancy
Stormorken syndrome
Sweeney-Cox syndrome
syndactyly type 1
syndactyly type 3
syndactyly type 4
syndactyly type 5
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome 1
terminal osseous dysplasia
Thiel-Behnke corneal dystrophy
Thomsen disease
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
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 +
trichodontoosseous syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tuberous sclerosis +
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
ulnar-mammary syndrome
uveal coloboma-cleft lip and palate-intellectual disability
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
warfarin sensitivity
Watson syndrome
Weaver syndrome
Weyers acrofacial dysostosis
WHIM syndrome 1
white sponge nevus 1
white sponge nevus 2
Williams-Beuren syndrome
Worth syndrome
ZTTK syndrome
congenital myasthenic syndrome 3A
3-methylglutaconic aciduria type 7a
3p deletion syndrome
46,XX sex reversal 2
46,XX sex reversal 4
46,XX sex reversal 5
46,XY sex reversal 10
46,XY sex reversal 3
46,XY sex reversal 6
46,XY sex reversal 9
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
achondrogenesis type II
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromelic frontonasal dysostosis
adermatoglyphia
ADULT syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
agammaglobulinemia 10
agammaglobulinemia 5
agammaglobulinemia 8A
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
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
amyotrophic neuralgia
Andersen-Tawil syndrome
aniridia 1
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankylosing spondylitis 2
ankyrin-B-related cardiac arrhythmia
anterior segment dysgenesis 1
anterior segment dysgenesis 3
anterior segment dysgenesis 4
antithrombin III deficiency
Antley-Bixler syndrome without disordered steroidogenesis
aortic valve disease 1
aortic valve disease 2
aortic valve disease 3
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 14
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
atrial standstill 1
autoimmune interstitial lung, joint, and kidney disease
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
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 familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant intellectual developmental disorder +
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant microcephaly
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
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 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 progressive external ophthalmoplegia with mitochondrial DNA deletions 6
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 severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant spondyloepiphyseal dysplasia tarda
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
Axenfeld-Rieger syndrome +
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
bent bone dysplasia syndrome 1
Beukes hip dysplasia
bilateral optic nerve hypoplasia
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
blue color blindness
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
brachycephaly, trichomegaly, and developmental delay
brachydactyly type A1 +
brachydactyly type A2
brachydactyly type C
brachydactyly type D
brachydactyly-syndactyly syndrome
brain small vessel disease 1
brain small vessel disease 2
branchiooculofacial syndrome
branchiootorenal syndrome +
bronchiectasis 1
bronchiectasis 2
bronchiectasis 3
Brooke-Spiegler 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
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney complex
Carney-Stratakis syndrome
carpal tunnel syndrome 1
carpal tunnel syndrome 2
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types
cataract 12 multiple types
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 24
cataract 29
cataract 3 multiple types
cataract 30
cataract 31 multiple types
cataract 32 multiple types
cataract 33
cataract 37
cataract 39 multiple types
cataract 4 multiple types
cataract 41
cataract 42
cataract 43
cataract 47
cataract 5 multiple types
cataract 6 multiple types
cataract 7
cataract 8 multiple types
cataract 9 multiple types
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
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 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
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 neurodegeneration with brain atrophy
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36.33 duplication syndrome
chromosome 5q12 deletion syndrome
CINCA Syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleidocranial dysplasia
Clouston syndrome
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
complex cortical dysplasia with other brain malformations +
cone-rod dystrophy 24
congenital adrenal insufficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital diarrhea 6
congenital dyserythropoietic anemia type IV
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital megabladder
congenital muscular dystrophy due to LMNA mutation
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 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
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 2A
congenital myasthenic syndrome 2C
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 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital myopathy 15
congenital myopathy 16
congenital myopathy 18
congenital myopathy 1A
congenital myopathy 2C
congenital myopathy 4A +
congenital myopathy 6
congenital myopathy 8
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
congenital nystagmus 2
congenital nystagmus 3
congenital nystagmus 7
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 6
cortisone reductase deficiency 2
Costello syndrome
craniofacial-deafness-hand syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy
Culler-Jones syndrome
Currarino syndrome
D-2-hydroxyglutaric aciduria 2
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
delta beta-thalassemia
dentinogenesis imperfecta
Denys-Drash syndrome
dermatopathia pigmentosa reticularis
DeSanto-Shinawi syndrome
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31A
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
diaphyseal medullary stenosis with malignant fibrous histiocytoma
DICER1 syndrome
diffuse cystic renal dysplasia
DiGeorge syndrome
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 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
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 7
distal myopathy 1
distal myopathy 3
distal myopathy Tateyama type
distal myopathy with rimmed vacuoles
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
dopa-responsive dystonia
Doyne honeycomb retinal dystrophy
Dravet syndrome
Duane-radial ray syndrome
dysplastic nevus syndrome
dystonia 12
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 28, childhood-onset
dystonia 30
dystonia 33
dystonia 9
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
early-onset epilepsy 2
early-onset epilepsy 3
ectodermal dysplasia 10A
ectodermal dysplasia 11A
ectodermal dysplasia 12
ectodermal dysplasia and immunodeficiency 2
EEC syndrome +
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
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
epidermolytic hyperkeratosis 1
epidermolytic palmoplantar keratoderma 1
epidermolytic palmoplantar keratoderma 2
episodic ataxia type 9
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
essential tremor 1
essential tremor 2
essential tremor 4
essential tremor 5
essential tremor 6
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial adenomatous polyposis 1
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial Behcet-like autoinflammatory syndrome
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial focal epilepsy with variable foci +
familial gestational hyperthyroidism
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia +
familial male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial renal glucosuria
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
familial visceral amyloidosis
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Feingold syndrome
fibrochondrogenesis 2
fibrodysplasia ossificans progressiva
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 7
focal segmental glomerulosclerosis 8
foveal hypoplasia 1
Frasier syndrome
frontometaphyseal dysplasia 2
geleophysic dysplasia 2
geleophysic dysplasia 3
giant axonal neuropathy 2
gingival fibromatosis 5
glomangioma +
glucose transporter type 1 deficiency syndrome 2
gnathodiaphyseal dysplasia
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hailey-Hailey disease
Hajdu-Cheney syndrome
hand-foot-genital syndrome
Harel-Yoon syndrome
hawkinsinuria
Heinz body anemia
heparin cofactor II deficiency
hereditary angioedema +
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
hereditary hemorrhagic telangiectasia
hereditary lymphedema IA
hereditary lymphedema IB
hereditary lymphedema IC
hereditary lymphedema ID
hereditary lymphedema II
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 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 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 88
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 12
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 7
holoprosencephaly 9
Holt-Oram syndrome
hot water epilepsy 1
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
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 6
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
hypotrichosis 1
hypotrichosis 11
hypotrichosis 12
hypotrichosis 13
hypotrichosis 2
hypotrichosis 3
hypotrichosis 4
hypotrichosis 5
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis vulgaris
idiopathic pulmonary fibrosis
immunodeficiency 11B
immunodeficiency 13
immunodeficiency 14
immunodeficiency 15A
immunodeficiency 21
immunodeficiency 27B
immunodeficiency 31A
immunodeficiency 31C
immunodeficiency 32A
immunodeficiency 36
immunodeficiency 39
immunodeficiency 49
immunodeficiency 60
immunodeficiency 70
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
inclusion body myopathy and brain white matter abnormalities
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-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
intellectual disability-severe speech delay-mild dysmorphism syndrome
interstitial lung disease 1
interstitial lung disease 2
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
isolated mitochondrial myopathy
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
IVIC syndrome
Jansen's metaphyseal chondrodysplasia
juvenile amyotrophic lateral sclerosis type 27
juvenile glaucoma
juvenile polyposis syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kenny-Caffey syndrome type 2
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
King Denborough syndrome
KINSSHIP syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Klippel-Feil syndrome 1
Klippel-Feil syndrome 3
Kniest dysplasia
Koolen de Vries syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Larsen syndrome
lateral meningocele syndrome
lattice corneal dystrophy
Laurin-Sandrow syndrome
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Legius syndrome
Lenz-Majewski hyperostotic dwarfism
leucine-sensitive hypoglycemia of infancy
Li-Fraumeni syndrome +
lissencephaly 1
lissencephaly 10
lissencephaly 3
lissencephaly 9 with complex brainstem malformation
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 16
long QT syndrome 2
long QT syndrome 3
long QT syndrome 4
long QT syndrome 5
long QT syndrome 6
long QT syndrome 8
long QT syndrome 9
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia
mandibulofacial dysostosis, Guion-Almeida type
Marsili syndrome
maturity-onset diabetes of the young +
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B
Meier-Gorlin syndrome 6
melanoma and neural system tumor syndrome
metachondromatosis
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
metatropic dysplasia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Miller-Dieker lissencephaly syndrome
Mitchell syndrome
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Moebius syndrome
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
multiple synostoses syndrome +
multiple types of congenital heart defects 6
myoclonic dystonia 11
myoclonic dystonia 15
myoclonic dystonia 26
myoclonic dystonia 34
myoclonic-atonic epilepsy
myofibrillar myopathy 1
myofibrillar myopathy 2
myofibrillar myopathy 3
myofibrillar myopathy 4
myofibrillar myopathy 5
myofibrillar myopathy 6
Naegeli-Franceschetti-Jadassohn syndrome
nail-patella syndrome
nemaline myopathy 4
nemaline myopathy 5C
nemaline myopathy 6
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
neurodevelopmental disorder with involuntary movements
neurofibromatosis +
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus
neuronal ceroid lipofuscinosis 4
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome 1
NFIA-related disorder
Nicolaides-Baraitser syndrome
nonautoimmune hyperthyroidism
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 11
Noonan syndrome 12
Noonan syndrome 13
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
ocular albinism with sensorineural deafness
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
omodysplasia 2
optic atrophy 1
optic atrophy 10
optic atrophy 12
optic atrophy 3
optic atrophy 4
optic atrophy 5
optic atrophy 8
orofacial cleft 1
orofacial cleft 13
orofacial cleft 6
orofaciodigital syndrome X
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteoglophonic dysplasia
otosclerosis +
otospondylomegaepiphyseal dysplasia, autosomal dominant
ovarian dysgenesis 8
overhydrated hereditary stomatocytosis
pachyonychia congenita
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 6
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PAPA syndrome
paraganglioma
paramyotonia congenita of Von Eulenburg
parastremmatic dwarfism
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 extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
PCWH syndrome
Pelger-Huet anomaly
permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 4B
Perry syndrome
Pfeiffer syndrome
piebaldism
pigmented paravenous chorioretinal atrophy
Pitt-Hopkins syndrome
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 9
polycystic liver disease +
popliteal pterygium syndrome
posterior amorphous corneal dystrophy
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
preaxial polydactyly II
preaxial polydactyly type IV
primary autosomal dominant microcephaly 18
primary ciliary dyskinesia 43
primary failure of tooth eruption
primary ovarian insufficiency 11
primary ovarian insufficiency 16
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary pigmented nodular adrenocortical disease 1
primary pigmented nodular adrenocortical disease 2
primary pigmented nodular adrenocortical disease 4
progeria
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive osseous heteroplasia
protein C deficiency +
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
proximal symphalangism +
pseudoachondroplasia
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Rapp-Hodgkin syndrome
renal coloboma syndrome
renal hypomagnesemia 7, with or without dilated cardiomyopathy
retinal arterial tortuosity
retinal cone dystrophy 1
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
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 83
retinitis pigmentosa 87
retinitis pigmentosa 89
retinitis pigmentosa 9
retinitis pigmentosa-deafness syndrome
Revesz syndrome
ring dermoid of cornea
rippling muscle disease 2
Rubinstein-Taybi syndrome
SADDAN
Saethre-Chotzen syndrome
Saul-Wilson syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schinzel Giedion 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
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
schwannomatosis +
sclerosteosis 2
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
severe congenital neutropenia 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
SHORT syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
Sotos syndrome 1
Sotos syndrome 2
spastic ataxia 1
spastic ataxia 7
speech-language disorder-1
spermatogenic failure 10
spermatogenic failure 11
spermatogenic failure 12
spermatogenic failure 2
spermatogenic failure 3
spermatogenic failure 32
spermatogenic failure 36
spermatogenic failure 4
spermatogenic failure 8
spinal muscular atrophy with lower extremity predominant +
spinal muscular atrophy, Jokela type
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondyloperipheral dysplasia
steatocystoma multiplex
Stickler syndrome 1
Stickler syndrome 2
stiff skin syndrome
STING-associated vasculopathy with onset in infancy
Stormorken syndrome
Sweeney-Cox syndrome
syndactyly type 1
syndactyly type 3
syndactyly type 4
syndactyly type 5
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome 1
terminal osseous dysplasia
Thiel-Behnke corneal dystrophy
Thomsen disease
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
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 +
trichodontoosseous syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tuberous sclerosis +
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
ulnar-mammary syndrome
uveal coloboma-cleft lip and palate-intellectual disability
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
warfarin sensitivity
Watson syndrome
Weaver syndrome
Weyers acrofacial dysostosis
WHIM syndrome 1
white sponge nevus 1
white sponge nevus 2
Williams-Beuren syndrome
Worth syndrome
ZTTK syndrome
Child term(s)
denotes an 'is-a' relationship