At a Glance
Robinow syndrome, autosomal recessive 2;
ADULT syndrome;
Acheiropodia
more...
⨉
Robinow syndrome, autosomal recessive 2
ADULT syndrome
Acheiropodia
Achondroplasia
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocephalosyndactyly type I
Acrodysostosis 1 with or without hormone resistance
Acrodysostosis 2 with or without hormone resistance
Acrofacial dysostosis Cincinnati type
Acromelic frontonasal dysostosis
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 3
Acromicric dysplasia
Adams-Oliver syndrome 1
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
Adams-Oliver syndrome 4
Adams-Oliver syndrome 5
Adams-Oliver syndrome 6
Amyotrophic lateral sclerosis type 11
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Aortic valve disease 1
Asphyxiating thoracic dystrophy 4
Ataxia-telangiectasia-like disorder 1
Atrioventricular septal defect 3
Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 3
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant omodysplasia
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive Robinow syndrome
Avascular necrosis of femoral head, primary, 2
Baller-Gerold syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Beare-Stevenson cutis gyrata syndrome
Bent bone dysplasia syndrome 1
Bilateral parasagittal parieto-occipital polymicrogyria
Borjeson-Forssman-Lehmann syndrome
Brachydactyly type A1
Brachydactyly type A1C
Brachydactyly type A1D
Brachydactyly type A2
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-syndactyly syndrome
Brachyolmia-amelogenesis imperfecta syndrome
Brachyrachia (short spine dysplasia)
Brugada syndrome 3
CK syndrome
CLAPO syndrome
CLOVES syndrome
COACH syndrome 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptomelic dysplasia
Camptosynpolydactyly, complex
Carcinoma of pancreas
Cardiac valvular dysplasia, X-linked
Carney complex, type 1
Catel-Manzke syndrome
Cenani-Lenz syndactyly syndrome
Cervix cancer
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 4J
Child syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Cocoon syndrome
Coffin-Siris syndrome 1
Coffin-Siris syndrome 5
Coffin-Siris syndrome 7
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Colorectal cancer
Congenital absence of salivary gland
Congenital hypotrichosis with juvenile macular dystrophy
Congenital macrodactylia
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenic syndrome 17
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Cowden syndrome 5
Craniodiaphyseal dysplasia, autosomal dominant
Craniofacial dysostosis
Craniometaphyseal dysplasia, autosomal recessive
Crouzon syndrome-acanthosis nigricans syndrome
Curry-Hall syndrome
Cushing syndrome
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Duane-radial ray syndrome
EEM syndrome
Ectodermal dysplasia-syndactyly syndrome 1
Ectopia lentis 1, isolated, autosomal dominant
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ellis-van Creveld syndrome
Encephalocraniocutaneous lipomatosis
Epidermal nevus
Erythrokeratodermia variabilis et progressiva 3
FG syndrome 2
Familial atrial myxoma
Familial cancer of breast
Familial digital arthropathy-brachydactyly
Familial meningioma
Familial scaphocephaly syndrome, McGillivray type
Feingold syndrome type 1
Filippi syndrome
Focal dermal hypoplasia
Fraser syndrome 1
Fraser syndrome 2
Frontometaphyseal dysplasia 1
Fuhrmann syndrome
Geleophysic dysplasia 2
Geleophysic dysplasia 3
Generalized juvenile polyposis/juvenile polyposis coli
Germ cell tumor of testis
Glaucoma 3, primary congenital, D
Glaucoma 3, primary infantile, B
Grebe syndrome
Greig cephalopolysyndactyly syndrome
Guttmacher syndrome
Hamartoma of hypothalamus
Hand-foot-genital syndrome
Hartsfield-Bixler-Demyer syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Hemochromatosis type 1
Hepatocellular carcinoma
Heterotopia, periventricular, X-linked dominant
Holoprosencephaly 9
Holt-Oram syndrome
Hydrolethalus syndrome 2
Hyperphosphatasemia tarda
Hyperphosphatasia with intellectual disability syndrome 1
Hypochondroplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypoplastic left heart syndrome 1
Immunodeficiency 23
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, autosomal dominant 27
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Isolated cryptophthalmia
Isolated microphthalmia 4
Jackson-Weiss syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 31
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
KBG syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Keutel syndrome
Klippel-Feil syndrome 1, autosomal dominant
Lathosterolosis
Laurin-Sandrow syndrome
Leber congenital amaurosis 10
Leber congenital amaurosis 17
Lenz-Majewski hyperostosis syndrome
Levy-Hollister syndrome
Limb-mammary syndrome
Long qt syndrome 8
Lung cancer
MASS syndrome
MEGF8-related Carpenter syndrome
MORM syndrome
Malignant tumor of urinary bladder
Marfan syndrome
McCune-Albright syndrome
McKusick-Kaufman syndrome
Meckel syndrome 13
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Meckel syndrome, type 9
Megalencephaly-capillary malformation-polymicrogyria syndrome
Melnick-Needles syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
Mesoaxial synostotic syndactyly with phalangeal reduction
Metatropic dysplasia
Microphthalmia with brain and digit anomalies
Microphthalmia with limb anomalies
Microphthalmia, isolated, with coloboma 6
Microspherophakia
Miller syndrome
Muenke syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
Multiple synostoses syndrome 4
Mungan syndrome
Myhre syndrome
Myopathy, centronuclear, 6, with fiber-type disproportion
NPHP3-related Meckel-like syndrome
Nager syndrome
Neoplasm of ovary
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 14
Nephronophthisis 3
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Nicolaides-Baraitser syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculootoradial syndrome
Orofacial cleft 11
Orofacial cleft 8
Orofacial-digital syndrome IV
Orofaciodigital syndrome 16
Orofaciodigital syndrome 18
Orofaciodigital syndrome I
Orofaciodigital syndrome V
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 6
Osteoarthritis of hip
Osteoglophonic dysplasia
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Pallister-Hall syndrome
Parastremmatic dwarfism
Pelviscapular dysplasia
Peters plus syndrome
Pfeiffer syndrome
Pigmented nodular adrenocortical disease, primary, 1
Pituitary adenoma 3, multiple types
Polydactyly of a triphalangeal thumb
Polydactyly, postaxial, type A1
Polysyndactyly 4
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progressive myositis ossificans
Progressive osseous heteroplasia
Proximal symphalangism 1A
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
RAB23-related Carpenter syndrome
RHYNS syndrome
Radial aplasia-thrombocytopenia syndrome
Rapadilino syndrome
Rapp-Hodgkin ectodermal dysplasia syndrome
Renal-hepatic-pancreatic dysplasia 1
Retinitis pigmentosa
Retinitis pigmentosa 23
Retinitis pigmentosa 51
Retinitis pigmentosa 55
Retinitis pigmentosa 74
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome type 2
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Saethre-Chotzen syndrome
Sarcotubular myopathy
Scapuloperoneal spinal muscular atrophy
Schinzel phocomelia syndrome
Schwannomatosis 1
Sclerosteosis 1
Sclerosteosis 2
Seborrheic keratosis
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 14 with polydactyly
Simpson-Golabi-Behmel syndrome type 2
Smith-Lemli-Opitz syndrome
Sodium serum level quantitative trait locus 1
Split hand-foot malformation 1
Split hand-foot malformation 1 with sensorineural hearing loss
Split hand-foot malformation 4
Split hand-foot malformation 6
Split-foot malformation-mesoaxial polydactyly syndrome
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Stapes ankylosis with broad thumbs and toes
Stiff skin syndrome
Stomach cancer
Striatonigral degeneration, childhood-onset
Symphalangism, proximal, 1B
Symphalangism-brachydactyly syndrome
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Synpolydactyly type 1
Synpolydactyly type 2
Talipes equinovarus
Tarsal-carpal coalition syndrome
Temtamy preaxial brachydactyly syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Tetraamelia syndrome 1
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thrombocythemia 1
Tibia, hypoplasia or aplasia of, with polydactyly
Timothy syndrome
Tooth agenesis, selective, 8
Townes-Brocks syndrome 1
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trigonocephaly 1
Ulnar-mammary syndrome
Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3
Wiedemann-Steiner syndrome
Yunis-Varon syndrome
ACVR1 (2q24.1);
ADAMTS10 (19p13.2);
ADAMTS17 (15q26.3);
AFF4 (5q31.1);
AHI1 (6q23.3)
more...
Conditions
Help
Total conditions: 367
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
