Autosomal hereditary disorder

Autosomal dominant hereditary disorder (disorder)
	Autosomal dominant hereditary disorder
	AD - Autosomal dominant
	autosomaal dominante hereditaire aandoening
	AD erfelijke aandoening

Id	11164009
Status	Primitive

ICD-10 complex map reference set

Target	Q99.9
Rule	TRUE
Advice	ALWAYS Q99.9
Correlation	SNOMED CT source code to target map code correlation not specified

11p15.4 microduplication syndrome

14q32 duplication syndrome

17q11.2 microduplication syndrome

17q23.1-q23.2 duplication syndrome

2p13.2 microdeletion syndrome

3q27.3 microdeletion syndrome

3q29 microdeletion syndrome

8q13 microdeletion syndrome

8q24.3 microdeletion syndrome

Aase Smith type 1 syndrome

Aase syndrome

Ablepharon macrostomia syndrome

Absence of fingerprints with congenital milia syndrome

Achondroplasia1

Acrocephalosyndactyly type I

Acrocephalosyndactyly type V3

Acrodysostosis

Acrokeratosis verruciformis of Hopf

Acromegaloid facial appearance syndrome

Acromicric dysplasia

Acroosteolysis, keloid-like lesions, premature aging syndrome

Acropectoral syndrome

Acropectorovertebral dysplasia

Acrorenoocular syndrome

Acute intermittent porphyria1

ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome

Adult onset autosomal dominant leukodystrophy

Adult-onset cervical dystonia DYT23 type

Adult-onset distal myopathy due to valosin containing protein mutation

AGel amyloidosis

AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

AKT2-related familial partial lipodystrophy

Albinism-deafness syndrome of Tietz

Alexander's disease

Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome

Alpha-B crystallin-related late-onset myopathy

Alport syndrome autosomal dominant

Amelo-onycho-hypohidrotic syndrome

Amelogenesis imperfecta - hypoplastic autosomal dominant - local

Amelogenesis imperfecta - hypoplastic autosomal dominant - rough

Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth

Amyotrophic lateral sclerosis type 10

Amyotrophic lateral sclerosis type 3

Amyotrophic lateral sclerosis type 4

Amyotrophic lateral sclerosis type 8

Amyotrophic lateral sclerosis type 9

Andersen Tawil syndrome

Aneurysm osteoarthritis syndrome

Angel-shaped phalangoepiphyseal dysplasia

Aniridia and absent patella syndrome

Aniridia and intellectual disability syndrome

Aniridia, ptosis, intellectual disability, familial obesity syndrome

Ankylosing vertebral hyperostosis with tylosis syndrome

Ankyrin-B syndrome

Antecubital pterygium syndrome

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

Aphalangy and syndactyly with microcephaly syndrome

Aplasia of lacrimal and salivary gland

Arteriohepatic dysplasia

Asymmetric crying face association

Ataxia pancytopenia syndrome

Atrial septal defect, atrioventricular conduction defect syndrome

Auriculo-condylar syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

Autoimmune interstitial lung disease, arthritis syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein

Autosomal dominant Alzheimer disease due to mutation of presenilin 1

Autosomal dominant Alzheimer disease due to mutation of presenilin 2

Autosomal dominant amyotrophic lateral sclerosis type 1

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant beta2-microglobulinic amyloidosis

Autosomal dominant brachyolmia

Autosomal dominant central core disease

Autosomal dominant centronuclear myopathy

Autosomal dominant cerebellar ataxia type 2

Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome

Autosomal dominant Charcot-Marie-Tooth disease type 227

Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation

Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation

Autosomal dominant cystoid macular edema

Autosomal dominant deafness with onychodystrophy syndrome

Autosomal dominant deficiency of plasminogen

Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type

Autosomal dominant distal hereditary motor neuropathy8

Autosomal dominant dopa responsive dystonia

Autosomal dominant dyskeratosis congenita1

Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant epidermolysis bullosa simplex4

Autosomal dominant epilepsy with auditory features

Autosomal dominant excess of transthyretin

Autosomal dominant familial isolated hypoparathyroidism

Autosomal dominant familial woolly hair Autosomal dominant familial wooly hair

Autosomal dominant focal dystonia DYT25 type

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal dominant generalized dystrophic epidermolysis bullosa

Autosomal dominant hereditary motor neuron disease1

Autosomal dominant hereditary spastic paraplegia23

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hypocalcemia1

Autosomal dominant hypohidrotic ectodermal dysplasia syndrome

Autosomal dominant hypophosphatemic bone disease2

Autosomal dominant ichthyosis6

Autosomal dominant idiopathic familial dystonia4

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant keratitis

Autosomal dominant late onset basal ganglia degeneration

Autosomal dominant late onset Parkinson disease

Autosomal dominant late-onset retinal degeneration

Autosomal dominant macrothrombocytopenia

Autosomal dominant mandibular prognathism

Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant multiple pterygium syndrome

Autosomal dominant muscular dystrophy not predominantly limb girdle4

Autosomal dominant muscular dystrophy with limb girdle distribution7

Autosomal dominant myoglobinuria

Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome

Autosomal dominant neovascular inflammatory vitreoretinopathy

Autosomal dominant omodysplasia

Autosomal dominant osteopetrosis type 2

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant polycystic kidney disease5

Autosomal dominant polycystic liver disease

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant primary microcephaly

Autosomal dominant progressive external ophthalmoplegia5

Autosomal dominant progressive nephropathy with hypertension

Autosomal dominant pseudoxanthoma elasticum

Autosomal dominant pterygium of conjunctiva

Autosomal dominant retinitis pigmentosa1

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant Robinow syndrome

Autosomal dominant secondary polycythemia

Autosomal dominant sensory neuropathy

Autosomal dominant severe congenital neutropenia

Autosomal dominant sideroblastic anemia

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant spastic ataxia type 1

Autosomal dominant spondylocostal dysostosis

Autosomal dominant striatal neurodegeneration

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal dominant tubulointerstitial kidney disease2

Autosomal dominant variant form of albumin

Autosomal dominant vitreoretinochoroidopathy

BAP1 tumor predisposition syndrome

Baraitser-Winter syndrome

Behavioral variant of frontotemporal dementia

Benign adult familial myoclonic epilepsy

Benign autosomal dominant osteopetrosis

Benign concentric annular macular dystrophy

Benign familial mesial temporal lobe epilepsy

Benign familial neonatal-infantile seizures

Benign neonatal familial convulsions

BENTA disease

Best vitelliform macular dystrophy

Bethlem myopathy

Bleeding diathesis due to thromboxane synthesis deficiency

Blepharocheilodontic syndrome

Blepharoptosis, myopia, ectopia lentis syndrome

Blindness, scoliosis, arachnodactyly syndrome

Book syndrome

Brachydactyly and arterial hypertension syndrome

Brachydactyly and distal symphalangism syndrome

Brachydactyly and preaxial hallux varus syndrome

Brachydactyly type A1

Brachydactyly type A2

Brachydactyly type A3

Brachydactyly type A4

Brachydactyly type A5

Brachydactyly type A6

Brachydactyly type B2

Brachydactyly type D

Brachydactyly with syndactyly Zhao type

Brachymorphism with onychodysplasia and dysphalangism syndrome

Brachytelephalangy, facial dysmorphism, Kallmann syndrome

Brain lung thyroid syndrome

Branchiogenic deafness syndrome

Branchiooculofacial syndrome

Branchiootic syndrome

Brooke-Spiegler syndrome

Brugada syndrome

Butterfly-shaped pigmentary macular dystrophy

Cap myopathy

Capillary malformation-arteriovenous malformation syndrome

Cardiac anomaly and heterotaxy syndrome

Cardiospondylocarpofacial syndrome

Carney complex

Carney Stratakis syndrome

Carpotarsal osteochondromatosis

Cataract glaucoma syndrome

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy

Cathepsin A-related arteriopathy, strokes, leukoencephalopathy

Caveolin 3 related distal myopathy

Centrofacial lentiginosis syndrome

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

Cerebrooculonasal syndrome

Char syndrome

CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome

Childhood-onset autosomal dominant optic atrophy

Childhood-onset benign chorea with striatal involvement

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Childhood-onset nemaline myopathy

CHMP2B-related frontotemporal dementia

Choanal atresia with radial ray hypoplasia

Choroid plexus carcinoma

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

Chronic respiratory distress with surfactant metabolism deficiency

Cleft palate with short stature and vertebral anomaly syndrome

Cleft palate, large ears, small head syndrome

Cleidocranial dysostosis

Cleidorhizomelic syndrome

Cochleosaccular degeneration and cataract syndrome

COL4A1-related familial vascular leukoencephalopathy

Cole disease

Coloboma of macula with brachydactyly type B syndrome

Colobomatous macrophthalmia with microcornea syndrome

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

Congenital blue dot cataract

Congenital contractural arachnodactyly

Congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemia, type III

Congenital fiber-type disproportion myopathy due to MYH7 mutation

Congenital hereditary endothelial dystrophy type 1

Congenital Horner syndrome

Congenital muscular dystrophy due to LMNA mutation

Congenital myopathy with internal nuclei and atypical cores

Congenital myotonia, autosomal dominant form

Congenital reticular ichthyosiform erythroderma

Congenital short costocoracoid ligament

Congenital stromal corneal dystrophy

Cooks syndrome

Coralliform cataract

Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Coxopodopatellar syndrome

Cranio-cervical dystonia with laryngeal and upper limb involvement

Craniofacial conodysplasia syndrome

Craniofacial deafness hand syndrome

Craniosynostosis Boston type

Craniosynostosis Philadelphia type

Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome

Crouzon syndrome1

Cryptomicrotia brachydactyly syndrome

Curly hair, acral keratoderma, caries syndrome

Currarino triad

Cutis gyrata syndrome of Beare and Stevenson

Cutis laxa, autosomal dominant

Cyprus facial neuromusculoskeletal syndrome

Czech dysplasia metatarsal type

Dacryocystitis and osteopoikilosis syndrome

Darier disease6

DDX41-related hematologic malignancy predisposition syndrome

Deafness craniofacial syndrome

Deficiency in anterior pituitary function, variable immunodeficiency syndrome

Dehydrated hereditary stomatocytosis

Dentatorubropallidoluysian degeneration1

Dentin dysplasia5

Dentinogenesis imperfecta9

Dermo-odonto dysplasia

Desmin-related myofibrillar myopathy

Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Developmental malformation, deafness, dystonia syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Diaphyseal dysplasia

DICER1 syndrome

Diffuse palmoplantar keratoderma and acrocyanosis syndrome

Diffuse palmoplantar keratoderma with painful fissures

Digitotalar dysmorphism

Dislocation of hip and facial dysmorphism syndrome

Distal arthrogryposis type 10

Distal arthrogryposis type 3

Distal myopathy 2

Distal myopathy Welander type

Distal myopathy with posterior leg and anterior hand involvement

Distichiasis-lymphedema syndrome

DNA2-related mitochondrial DNA deletion syndrome

Dominant autosomal hereditary disorder, complete penetrance

Dominant autosomal hereditary disorder, incomplete penetrance

Dominant beta-thalassemia

Dominant drusen

Dominant hereditary optic atrophy6

Doughnut lesion of calvaria and bone fragility syndrome

Drash syndrome

Duane retraction syndrome with congenital deafness

Dyschondrosteosis and nephritis syndrome

Dysplasia epiphysealis hemimelica

Dystonia aphonia syndrome

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

East Texas bleeding disorder

Ectodermal dysplasia trichoodontoonychial type

Ectodermal dysplasia with natal teeth Turnpenny type

EDICT syndrome

Edinburgh malformation syndrome

Ehlers-Danlos and osteogenesis imperfecta syndrome

Ehlers-Danlos syndrome classic type2

Emberger syndrome

Emery Nelson syndrome

Enlarged parietal foramina

Epibulbar lipodermoid, preauricular appendage, polythelia syndrome

Epidermolytic palmoplantar keratoderma of Vorner

Episodic ataxia9

Epithelial recurrent erosion dystrophy

Erythema palmare hereditarium

Exercise-induced hyperinsulinism

Extensor tendons of finger anomalies

External auditory canal atresia, vertical talus, hypertelorism syndrome

Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

Facial dysmorphism, conductive hearing loss, heart defect syndrome

Familial acute necrotizing encephalopathy

Familial advanced sleep phase syndrome

Familial Alzheimer-like prion disease

Familial amyloid nephropathy with urticaria AND deafness

Familial amyloid polyneuropathy6

Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease

Familial autosomal dominant hypoparathyroidism

Familial avascular necrosis of femoral head

Familial benign pemphigus

Familial bicuspid aortic valve1

Familial calcium pyrophosphate dihydrate crystal deposition disease

Familial caudal dysgenesis

Familial cavitary optic disc anomaly

Familial chilblain lupus erythematosus

Familial chondromalacia of patella

Familial cold urticaria1

Familial congenital palsy of trochlear nerve

Familial cortical myoclonus

Familial Creutzfeldt-Jakob

Familial cutaneous collagenoma

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

Familial developmental dysphasia

Familial digital arthropathy and brachydactyly syndrome

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Familial dyskeratotic comedones

Familial dyskinesia and facial myokymia

Familial encephalopathy with neuroserpin inclusion bodies

Familial episodic pain syndrome

Familial focal epilepsy with variable foci

Familial generalized lentiginosis

Familial hemiplegic migraine

Familial hyperprolactinemia

Familial hypodontia

Familial hypokalemic periodic paralysis

Familial isolated arrhythmogenic right ventricular dysplasia

Familial isolated congenital asplenia

Familial isolated hyperparathyroidism

Familial isolated pituitary adenoma

Familial male-limited precocious puberty

Familial multiple benign meningioma

Familial multiple discoid fibroma

Familial non-autoimmune autosomal dominant hyperthyroidism

Familial omphalocele syndrome with facial dysmorphism

Familial osteochondritis dissecans

Familial partial lipodystrophy Dunnigan type

Familial partial lipodystrophy Kobberling type

Familial patent arterial duct

Familial platelet syndrome with predisposition to acute myelogenous leukemia

Familial porencephaly

Familial porphyria cutanea tarda

Familial progressive hyper and hypopigmentation

Familial progressive hyperpigmentation

Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

Familial pseudohyperkalemia

Familial scaphocephaly syndrome McGillivray type

Familial Scheuermann disease

Familial spontaneous pneumothorax

Familial thoracic aortic aneurysm and aortic dissection

Familial vesicoureteral reflux

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Feingold syndrome

FGFR2-related bent bone dysplasia

Fibronectin glomerulopathy2

Fibular aplasia and ectrodactyly syndrome

Finnish upper limb onset distal myopathy

Flat face, microstomia, ear anomaly syndrome

Floating-Harbor syndrome

Focal facial dermal dysplasia type I

Focal facial dermal dysplasia type II

Focal palmoplantar and gingival keratoderma

Focal palmoplantar keratoderma with joint keratoses

Foveal hypoplasia with presenile cataract syndrome

FOXG1 syndrome

Frontotemporal dementia with parkinsonism-17

FTH1-related iron overload

Gabriele-de Vries syndrome

Gastric adenocarcinoma and proximal polyposis of stomach

Gastrocutaneous syndrome

GEMSS syndrome

Generalized basaloid follicular hamartoma syndrome

Generalized epilepsy and paroxysmal dyskinesia syndrome

Genitopatellar syndrome

Genochondromatosis type 1

Genochondromatosis type 2

Gingival fibromatosis and hypertrichosis syndrome

Gingival fibromatosis with progressive deafness syndrome

Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

Glomuvenous malformation

Glucose transporter protein type 1 deficiency syndrome1

GMS syndrome

Gnathodiaphyseal dysplasia

Gorlin syndrome

Grant syndrome

Granular corneal dystrophy2

Granulomatous inflammatory arthritis, dermatitis and uveitis, familial

Grayson Wilbrandt corneal dystrophy

GRN-related frontotemporal dementia

Guttmacher syndrome

Hand-foot-genital syndrome

Haspeslagh Fryns Muelenaere syndrome

Hawkinsinuria

Heart-hand syndrome Slovenian type

Helicoid peripapillary chorioretinal degeneration

Hemifacial hyperplasia strabismus syndrome

Hemochromatosis type 4

Hemoglobinopathy Toms River

Hereditary angioedema with normal C1 esterase inhibitor activity

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary antithrombin III deficiency

Hereditary benign acanthosis nigricans

Hereditary benign intraepithelial dyskeratosis

Hereditary breast and ovarian cancer syndrome

Hereditary C1 esterase inhibitor deficiency - deficient factor

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

Hereditary camptodactyly2

Hereditary cavernous hemangioma of brain

Hereditary cerebral hemorrhage with amyloidosis2

Hereditary diffuse carcinoma of stomach

Hereditary diffuse leukoencephalopathy with spheroids

Hereditary elliptocytosis due to abnormal protein 4.1

Hereditary elliptocytosis due to alpha spectrin defect

Hereditary elliptocytosis due to beta spectrin defect in self-association

Hereditary elliptocytosis due to deficiency of protein 4.1

Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome

Hereditary geniospasm

Hereditary hollow viscus myopathy

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary hypotrichosis simplex of scalp

Hereditary inclusion body myopathy type 4

Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome

Hereditary keratoacanthoma

Hereditary leiomyomatosis and renal cell carcinoma

Hereditary lymphedema and yellow nails

Hereditary lymphedema type I

Hereditary lymphedema type II

Hereditary malignant neuroendocrine neoplasm of small intestine

Hereditary mixed polyposis syndrome

Hereditary motor and sensory neuropathy Okinawa type

Hereditary motor and sensory neuropathy type 5

Hereditary myopathy with early respiratory failure

Hereditary nephrogenic diabetes insipidus

Hereditary neurocutaneous angiomata

Hereditary oculoleptomeningeal amyloid angiopathy

Hereditary papillary renal cell carcinoma

Hereditary pediatric Behçet-like disease

Hereditary persistence of alpha-fetoprotein

Hereditary pheochromocytoma and paraganglioma

Hereditary progressive mucinous histiocytosis

Hereditary sensorimotor neuropathy with hyperelastic skin

Hereditary sensory and autonomic neuropathy type 1B

Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory autonomic neuropathy type IA

Hereditary sensory autonomic neuropathy type IC

Hereditary sensory autonomic neuropathy type ID

Hereditary sensory autonomic neuropathy type IE

Hereditary sensory-motor neuropathy, type I7

Hereditary site-specific ovarian cancer syndrome

Hereditary stomatocytosis2

Hereditary thermosensitive neuropathy

Hereditary thrombocytopenia with early-onset myelofibrosis

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary von Willebrand disease type 2B

Hereditary von Willebrand disease type 2M

Heritable pulmonary arterial hypertension due to BMPR2 mutation

Hidrotic ectodermal dysplasia Christianson Fourie type

Hidrotic ectodermal dysplasia syndrome

High bone mass osteogenesis imperfecta

Hip dysplasia Beukes type

HNPCC - hereditary nonpolyposis colon cancer5

HNSHA due to triosephosphate isomerase deficiency

Holt-Oram syndrome

Hot water reflex epilepsy

Howel-Evans' syndrome

HTRA1-related autosomal dominant cerebral small vessel disease

Hunter McAlpine craniosynostosis syndrome

Huntington disease-like 1

Huntington disease-like 2

Huntington disease-like syndrome due to C9ORF72 expansions

Huntington's chorea4

Hyaline dystrophy of Bruch's membrane

Hyperferritinemia cataract syndrome

Hyperinsulinism and hyperammonemia syndrome

Hyperinsulinism due to deficiency of glucokinase

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinism due to HNF4A deficiency

Hyperinsulinism due to insulin receptor deficiency

Hyperinsulinism due to uncoupling protein 2 deficiency

Hyperostosis cranialis interna

Hyperparathyroidism-jaw tumor syndrome

Hyperproinsulinemia

Hypertelorism Teebi type

Hypertelorism, preauricular sinus, punctual pits, deafness syndrome

Hypertension due to gain-of-function mutation in mineralocorticoid receptor

Hypertrichosis cubiti

Hyperuricemia, anemia, renal failure syndrome

Hyperzincemia and hypercalprotectinemia

Hypodontia and nail dysgenesis

Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

Hypoparathyroidism, deafness, renal disease syndrome

Hypoplastic tibia and postaxial polydactyly syndrome

Hypotrichosis and deafness syndrome

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome

Infundibulopelvic stenosis multicystic kidney syndrome

Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

Intellectual disability, expressive aphasia, facial dysmorphism syndrome

Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency

Interstitial lung disease due to surfactant protein C deficiency

Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome

Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome

Iron overload related to ferritin heavy chain 1

Isolated autosomal dominant hypomagnesemia Glaudemans type

Isolated congenital adermatoglyphia

Isolated cryptophthalmos

Isolated optic nerve hypoplasia

Isolated osteopoikilosis

ITM2B-related amyloidosis2

Jackson-Weiss syndrome

Johnson neuroectodermal syndrome

Juvenile cataract, microcornea, renal glucosuria syndrome

Juvenile polyposis syndrome3

Karsch Neugebauer syndrome

Kawashima Tsuji syndrome

KBG syndrome

KCNQ2-related epileptic encephalopathy

Keppen Lubinsky syndrome

King Denborough syndrome

Kleefstra syndrome

KLHL9-related early-onset distal myopathy

Kniest dysplasia

Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

Koolen De Vries syndrome

Kozlowski spondylometaphyseal dysplasia

KRT1-related diffuse nonepidermolytic keratoderma

Laing distal myopathy

Laing early-onset distal myopathy

LAMA5-related multisystemic syndrome

Larsen syndrome

Late-onset distal myopathy Markesbery Griggs type

Lattice corneal dystrophy2

Legius syndrome

Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome

Li-Fraumeni syndrome

Liebenberg syndrome

Limb mammary syndrome

Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

LMNA-related cardiocutaneous progeria syndrome

Loeys-Dietz syndrome

Long QT syndrome type 6

Long thumb brachydactyly syndrome

Lower motor neuron syndrome with late-adult onset

Lowry MacLean syndrome

Lymphedema and cerebral arteriovenous anomaly syndrome

Lynch syndrome3

Macrocephaly, intellectual disability, autism syndrome

Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Mammary digital nail syndrome

Mandibular hypoplasia, deafness, progeroid syndrome

Marfan's syndrome8

Marie Unna syndrome

Marshall-Smith syndrome

Martinique crinkled retinal pigment epitheliopathy

Maternal riboflavin deficiency

Maturity onset diabetes of the young, type 1

Maturity onset diabetes of the young, type 2

Maturity-onset diabetes of the young, type 10

Maturity-onset diabetes of the young, type 11

Maturity-onset diabetes of the young, type 3

Maturity-onset diabetes of the young, type 5

Maturity-onset diabetes of the young, type 8

Median nodule of upper lip

Meesman's corneal dystrophy

Melanoma and neural system tumor syndrome

Melnick-Fraser syndrome

Melorheostosis with osteopoikilosis

Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency

Menke-Hennekam syndrome

Mesomelic dysplasia Kantaputra type

Metabolic myopathy due to lactate transporter defect

Metachondromatosis

Metaphyseal dysplasia Braun Tinschert type

Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

Microcephalus, lymphedema, chorioretinopathy syndrome

Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome

Microcornea with glaucoma and absent frontal sinus syndrome

Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome

Microphthalmia with brain and digit anomaly

Microspherophakia with metaphyseal dysplasia syndrome

Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis

MIRAGE syndrome

Mirror hands and feet co-occurrent with nasal defect

Moebius syndrome

Morava Mehes syndrome

Mowat-Wilson syndrome1

Muenke syndrome

Mullerian aplasia1

Mullerian duct and limb anomalies syndrome

Multicentric carpotarsal osteolysis syndrome

Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus

Multiple congenital exostosis15

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia, type 3

Multiple epiphyseal dysplasia Beighton type

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 5

Multiple fibrofolliculomas

Multiple lentigines syndrome

Multiple osteochondroma

Multisystemic smooth muscle dysfunction syndrome

Muscle filaminopathy

Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

Muscular dystrophy Selcen type

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Mutilating keratoderma1

Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital problems, enteropathy syndrome

Myeloid neoplasm with germline predisposition5

Myhre syndrome

Myoclonus, cerebellar ataxia, deafness syndrome

Myotonic dystrophy3

Nail-patella syndrome

Nasopalpebral lipoma coloboma syndrome

Neuhauser Eichner Opitz syndrome

Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

Neurofibromatosis type 18

Neurofibromatosis type 2

Neurofibromatosis type 6

Neurogenic scapuloperoneal syndrome Kaeser type

Nicolaides-Baraitser syndrome

NLRP12-associated hereditary periodic fever syndrome

Non-hypoproteinemic hypertrophic gastropathy

Non-progressive cerebellar ataxia with intellectual disability

Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Noonan syndrome-like disorder with loose anagen hair

Noonan's syndrome

NUDT15 deficiency

Occult macular dystrophy

Oculodental syndrome

Oculootoradial syndrome

Odonto-tricho-ungual-digito-palmar syndrome

Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

Oligodontia and cancer predisposition syndrome

Optic nerve edema, splenomegaly syndrome

Osler hemorrhagic telangiectasia syndrome2

Osteocraniostenosis

Osteofibrous dysplasia

Osteogenesis imperfecta type I2

Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

Osteosclerosis, developmental delay, craniosynostosis syndrome

Overgrowth, macrocephaly, facial dysmorphism syndrome

Overhydrated hereditary stomatocytosis

Palmoplantar hyperkeratosis sclerodactyly syndrome

Palmoplantar keratoderma with clinodactyly syndrome

Palmoplantar keratoderma with deafness syndrome

Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma, spastic paralysis syndrome

Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

Pancytopenia due to IKZF1 mutations

Parastremmatic dwarfism

Parietal foramina with clavicular hypoplasia

Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity

Paroxysmal extreme pain disorder

Patterson Stevenson Fontaine syndrome

Pelvis shoulder dysplasia

Perilipin 1 related familial partial lipodystrophy

Periodic fever, infantile enterocolitis, autoinflammatory syndrome

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease

Peripheral dysostosis

Peripheral neuropathy with sensorineural hearing impairment syndrome

Peripheral resistance to thyroid hormone

Peutz-Jeghers syndrome1

PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome

Phosphoserine aminotransferase deficiency

Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction

Piebald trait with neurologic defects syndrome

Piebaldism

Pierpont syndrome

Pitt-Hopkins syndrome

PMP22-RAI1 contiguous gene duplication syndrome

Poikiloderma, alopecia, retrognathism, cleft palate syndrome

Polydactyly myopia syndrome

Polydactyly of biphalangeal thumb

Polydactyly of index finger

Polydactyly of triphalangeal thumb1

Polymicrogyria due to TUBB2B mutation

Polymorphous corneal dystrophy

Polyvalvular heart disease syndrome

Pontine autosomal dominant microangiopathy with leukoencephalopathy

Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome

Postaxial tetramelic oligodactyly

Posterior amorphous corneal dystrophy

Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency

Potassium aggravated myotonia3

PPARG-related familial partial lipodystrophy

Primary failure of tooth eruption

Primary hyperaldosteronism, seizures, neurological abnormalities syndrome

Primary pigmented nodular adrenocortical disease

Prion protein systemic amyloidosis

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Progressive bifocal chorioretinal atrophy

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 7

Progressive myositis ossificans

Progressive osseous heteroplasia

Progressive palmoplantar keratoderma of Greither

Progressive scapulohumeroperoneal distal myopathy

Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome

Pseudo von Willebrand disease

Pseudohypoaldosteronism, type 1, dominant form

Pseudohypoparathyroidism type 1C

Pseudohypoparathyroidism type I A

Pseudoprimary hyperaldosteronism

PTEN hamartoma tumor syndrome4

Ptosis and vocal cord paralysis syndrome

Ptosis, strabismus, ectopic pupil syndrome

Punctate palmoplantar keratoderma type 1

Punctate palmoplantar keratoderma type 2

Pyogenic arthritis, pyoderma gangrenosum and acne syndrome

Pyogenic arthritis, pyoderma gangrenosum, acne syndrome

QRICH1-related intellectual disability, chondrodysplasia syndrome

Radio-renal syndrome

Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

Ramos Arroyo syndrome

Rapid onset dystonia parkinsonism

Reinhardt Pfeiffer mesomelic dysplasia

Reis-Bucklers' corneal dystrophy

Renal coloboma syndrome

RERE-related neurodevelopmental syndrome

Reticular dystrophy of retinal pigment epithelium

Reticulate acropigmentation of Kitamura

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Retinal macular dystrophy type 2

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Rhabdoid tumor predisposition syndrome2

Rieger syndrome

Ring dermoid of cornea

Roch Leri mesosomatous lipomatosis

Rombo syndrome

Roussy-Lévy syndrome

Saethre-Chotzen syndrome

Scalp defect postaxial polydactyly syndrome

Scalp, ear, nipple syndrome

Schilbach Rott syndrome

Schmitt Gillenwater Kelly syndrome

Schnyder crystalline cornea dystrophy

Seborrhea-like dermatitis with psoriasiform elements

Sellars Beighton syndrome

Sensorineural deafness with dilated cardiomyopathy syndrome

Sensorineural hearing loss, early graying, essential tremor syndrome

Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency

Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome

Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome

Short fifth metacarpal insulin resistance syndrome

Short stature locking fingers syndrome

Short stature with valvular heart disease and characteristic facies syndrome

Short stature, advanced bone age, early-onset osteoarthritis syndrome

Short stature, pituitary and cerebellar defect and small sella turcica syndrome

Short tarsus with absence of lower eyelashes syndrome

Shprintzen Goldberg craniosynostosis syndrome

Shprintzen Goldberg omphalocele syndrome

SIX2-related frontonasal dysplasia

Sodium channelopathy-related small fiber neuropathy

Southeast Asian ovalocytosis

SOX2 anophthalmia syndrome

Spastic ataxia with congenital miosis

Spheroid body myopathy

Spinal muscular atrophy with lower extremity predominance

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 10

Spinocerebellar ataxia type 11

Spinocerebellar ataxia type 12

Spinocerebellar ataxia type 13

Spinocerebellar ataxia type 14

Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 17

Spinocerebellar ataxia type 18

Spinocerebellar ataxia type 19

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 20

Spinocerebellar ataxia type 21

Spinocerebellar ataxia type 23

Spinocerebellar ataxia type 25

Spinocerebellar ataxia type 26

Spinocerebellar ataxia type 27

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 29

Spinocerebellar ataxia type 30

Spinocerebellar ataxia type 31

Spinocerebellar ataxia type 32

Spinocerebellar ataxia type 34

Spinocerebellar ataxia type 35

Spinocerebellar ataxia type 36

Spinocerebellar ataxia type 37

Spinocerebellar ataxia type 38

Spinocerebellar ataxia type 4

Spinocerebellar ataxia type 40

Spinocerebellar ataxia type 41

Spinocerebellar ataxia type 42

Spinocerebellar ataxia type 43

Spinocerebellar ataxia type 5

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 8

Splenogonadal fusion, limb defect, micrognathia syndrome

Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome

Spondyloepimetaphyseal dysplasia Handigodu type

Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Spondyloepimetaphyseal dysplasia, Strudwick type

Spondyloepiphyseal dysplasia Cantu type

Spondyloepiphyseal dysplasia Kimberley type

Spondyloepiphyseal dysplasia MacDermot type

Spondyloepiphyseal dysplasia Maroteaux type

Spondyloepiphyseal dysplasia Reardon type

Spondyloepiphyseal dysplasia Stanescu type

Spondylometaphyseal dysplasia Schmidt type

Spondyloperipheral dysplasia1

Stapes ankylosis with broad thumb and toe syndrome

STAT3-related early-onset multisystem autoimmune disease

Steatocystoma multiplex1

Steinfeld syndrome

Stern Lubinsky Durrie syndrome

Stickler syndrome type 1

Stickler syndrome type 2

Stickler syndrome type 3

STING-associated vasculopathy with onset in infancy

Striate palmoplantar keratoderma

Subepithelial mucinous corneal dystrophy

Symphalangism Cushing type

Symphalangism with multiple anomalies of hands and feet syndrome

Syndromic microphthalmia type 5

Syndromic orbital border hypoplasia

SYNGAP1-related developmental and epileptic encephalopathy

Tall stature, scoliosis, macrodactyly of great toe syndrome

Tarsal-carpal coalition syndrome

Temple Baraitser syndrome

Tetramelic monodactyly

Thickened earlobe with conductive deafness syndrome

Thiel-Behnke corneal dystrophy

Thin basement membrane disease

Thoracolaryngopelvic dysplasia

Thrombocythemia with distal limb defect

Thrombomodulin-related bleeding disorder

Thumb deformity, alopecia, pigmentation anomaly syndrome

Thumb stiffness, brachydactyly, intellectual disability syndrome

Tibial aplasia and ectrodactyly syndrome

Timothy syndrome type 1

Timothy syndrome type 2

Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency

Transthyretin related familial amyloid cardiomyopathy

Tremor, nystagmus, duodenal ulcer syndrome

Trichodysplasia xeroderma syndrome

Trichorhinophalangeal syndrome type 1 and 3

Trigonocephaly with broad thumb syndrome

Triphalangeal thumb and dislocation of patella syndrome

Triphalangeal thumb and polysyndactyly syndrome

Triphalangeal thumb with brachyectrodactyly syndrome

Tuberous sclerosis syndrome4

Tubular renal disease with cardiomyopathy syndrome

Turcot syndrome

Ulna metaphyseal dysplasia syndrome

Ulnar mammary syndrome

Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

Upington disease

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

Velofacioskeletal syndrome

von Willebrand disease type 13

Wellesley Carman French syndrome

White platelet syndrome

White sponge nevus

Whyte Hemingway carpal tarsal phalangeal osteolyses

Witteveen Kolk syndrome

Wolfram-like syndrome

WT limb blood syndrome

XTE syndrome

Zimmermann-Laband syndrome