Disease Browser
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Parent Node: Bone Diseases, Developmental (D001848) | Parent Node: Brachydactyly (D059327) | Parent Node: Growth Disorders (D006130) | ..Starting node ..Acrocapitofemoral Dysplasia (C564334)
| Child Nodes:
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Sister Nodes: | ..Acrocapitofemoral Dysplasia (C564334)
| ..Acrocephalopolydactylous Dysplasia (C573722)
| ..Acromegaloid features, overgrowth, cleft palate, and hernia (C535656)
| ..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
| ..Al Gazali Khidr Prem Chandran syndrome (C535616)
| ..Aphalangia syndactyly microcephaly (C537787)
| ..Auriculoosteodysplasia (C538271)
| ..Bellini Chiumello Rimoldi syndrome (C535652)
| ..Berk-Tabatznik syndrome (C535432)
| ..Bhaskar Jagannathan syndrome (C535437)
| ..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
| ..Borjeson-Forssman-Lehmann syndrome (C536575)
| ..Boudhina Yedes Khiari syndrome (C537939)
| ..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Cantalamessa Baldini Ambrosi syndrome (C537981)
| ..Cantu Sanchez-Corona Fragoso syndrome (C535571)
| ..Cataracts, ataxia, short stature, and mental retardation (C535345)
| ..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
| ..Chitty Hall Baraitser syndrome (C535928)
| ..Chromosome 15q26-Qter Deletion Syndrome (C567232)
| ..Chromosome 18 Pericentric Inversion (C563734)
| ..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
| ..Clark-Baraitser syndrome (C536208)
| ..CODAS syndrome (C536434)
| ..Coffin syndrome 1 (C536435)
| ..Contractures ectodermal dysplasia cleft lip palate (C535465)
| ..Cote Katsantoni syndrome (C536449)
| ..COUSIN SYNDROME (OMIM:260660)
| ..Coxoauricular Syndrome (C565148)
| ..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Crumpled helices and small mouth (C536217)
| ..Curatolo Cilio Pessagno syndrome (C536701)
| ..Daish Hardman Lamont syndrome (C535770)
| ..Dermoids of cornea (C535376)
| ..Devriendt syndrome (C535947)
| ..Dubowitz syndrome (C535718)
| ..Dyschondrosteosis and Nephritis (C565080)
| ..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
| ..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
| ..Fallot complex with severe mental and growth retardation (C536608)
| ..Fetal Growth Retardation (D005317) 25
| ..Filippi syndrome (C538152)
| ..Floating-harbor syndrome (C537062)
| ..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
| ..Frias syndrome (C535639)
| ..Game Friedman Paradice syndrome (C535406)
| ..Gay Feinmesser Cohen syndrome (C537676)
| ..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
| ..GEMSS syndrome (C537679)
| ..GOMBO syndrome (C537284)
| ..Gomez Lopez Hernandez syndrome (C537285)
| ..Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
| ..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
| ..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
| ..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..Growth mental deficiency syndrome of Myhre (C537620)
| ..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
| ..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
| ..Hairy elbows (C535618)
| ..Heme Oxygenase 1 Deficiency (C564200)
| ..Hersh Podruch Weisskopk syndrome (C538114)
| ..Hooft disease (C535329)
| ..Hunter-McAlpine syndrome (C536072)
| ..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
| ..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
| ..Insulin-Like Growth Factor I Deficiency (C563867)
| ..Insulin-Like Growth Factor I, Resistance To (C564816)
| ..Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein (C564817)
| ..Johanson Blizzard syndrome (C535880)
| ..Jorgenson Lenz syndrome (C536292)
| ..Kozlowski Rafinski Klicharska syndrome (C537509)
| ..Krause-Kivlin syndrome (C537617)
| ..Kuster Majewski Hammerstein syndrome (C538125)
| ..Ladda Zonana Ramer syndrome (C538135)
| ..Langer mesomelic dysplasia (C537267)
| ..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
| ..Leri-Weil syndrome (C537119)
| ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
| ..LIG4 Syndrome (C564694)
| ..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
| ..Lowry Maclean syndrome (C537037)
| ..Lowry Wood syndrome (C537038)
| ..Macrosomia Adiposa Congenita (C565425)
| ..Madelung Deformity (C562398)
| ..Malocclusion and Short Stature (C565421)
| ..Megarbane syndrome (C536145)
| ..Meier-Gorlin syndrome (C538012)
| ..Mental and Growth Retardation with Amblyopia (C563591)
| ..Mental retardation Mietens Weber type (C537444)
| ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
| ..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
| ..Mental Retardation, X-Linked, with Short Stature (C564527)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Microcephaly cervical spine fusion anomalies (C537325)
| ..Microdontia hypodontia short stature (C537553)
| ..Milner Khallouf Gibson syndrome (C537473)
| ..Mitochondrial myopathy with lactic acidosis (C537476)
| ..Mollica Pavone Antener syndrome (C535809)
| ..Morillo-Cucci Passarge syndrome (C536983)
| ..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
| ..Nathalie syndrome (C538342)
| ..Neurofaciodigitorenal syndrome (C537388)
| ..Nijmegen Breakage Syndrome-Like Disorder (C567767)
| ..Omodysplasia type 1 (C537746)
| ..Onat syndrome (C537749)
| ..OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)
| ..Osteolysis syndrome recessive (C536052)
| ..Partington Anderson syndrome (C536299)
| ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
| ..Petty Laxova Wiedemann syndrome (C537886)
| ..Pfeiffer Kapferer syndrome (C537887)
| ..Pfeiffer Mayer syndrome (C537888)
| ..Pfeiffer Palm Teller syndrome (C537889)
| ..Pili torti developmental delay neurological abnormalities (C537398)
| ..Pilotto syndrome (C537400)
| ..Polydysspondyly (C565150)
| ..Premature aging, Okamoto type (C535270)
| ..Progeria short stature pigmented nevi (C536422)
| ..Progeroid Syndrome, Congenital, Petty Type (C567360)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar synostosis retinal pigment abnormalities (C536270)
| ..RAJAB SYNDROME (OMIM:613658)
| ..Ramon Syndrome (C535285)
| ..Reardon Wilson Cavanagh syndrome (C535295)
| ..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
| ..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
| ..Rodrigues blindness (C535865)
| ..Rommen Mueller Sybert syndrome (C535871)
| ..Rowley-Rosenberg syndrome (C535874)
| ..Say Meyer syndrome (C536620)
| ..Say syndrome (C536621)
| ..Schaap Taylor Baraitser syndrome (C536626)
| ..Schimke X-linked mental retardation syndrome (C536630)
| ..Seemanova Lesny syndrome (C537536)
| ..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
| ..Short stature syndrome, Brussels type (C537121)
| ..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
| ..Short Stature, Idiopathic, X-Linked (C564479)
| ..SHORT syndrome (C537327)
| ..Slavotinek Pike Mills Hurst syndrome (C536672)
| ..Sonoda syndrome (C536680)
| ..Spastic paraplegia 9, autosomal dominant (C536868)
| ..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
| ..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
| ..Stern Lubinsky Durrie syndrome (C537488)
| ..Synostosis of Talus and Calcaneus with Short Stature (C566089)
| ..Theodor Hertz Goodman syndrome (C536509)
| ..Thrombocytopenia Robin sequence (C536898)
| ..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
| ..Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
| ..Tonoki syndrome (C536967)
| ..Tsukahara Syndrome (C566376)
| ..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
| ..Vertebral body fusion overgrowth (C536543)
| ..Viljoen Kallis Voges syndrome (C536349)
| ..Volcke Soekarman syndrome (C537718)
| ..Wellesley Carmen French syndrome (C536691)
| ..Wiedemann Grosse Dibbern syndrome (C536704)
| ..Winchester syndrome (C536709)
| ..Wittwer syndrome (C536737)
| ..Young Hughes syndrome (C536715)
| ..Zerres Rietschel Majewski syndrome (C536724)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 177 |
Name: | Acrocapitofemoral Dysplasia |
Definition: | |
Alternative IDs: | OMIM:607778 |
ParentIDs: | MESH:D001848|MESH:D006130|MESH:D059327 |
TreeNumbers: | C05.116.099/C564334 |C05.660.585.262/C564334 |C16.131.621.585.262/C564334 |C23.550.393/C564334 |
Synonyms: | ACFD |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease|Pathology (process) |
Reference: |
MedGen: C564334
MeSH: C564334
OMIM: 607778;
Genes: IHH; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002181.3(IHH):c.569T>C (p.Val190Ala) | 3549 | IHH | Pathogenic | 121917857 | RCV000009421; | N | MedGen:C1843096,OMIM:607778,ORPHA:63446 | 2 | 219922163 | 219922163 | NM_002181.3:c.569T>C | NP_002172.2:p.Val190Ala | NC_000002.11:g.219922163A>G | OMIM Allelic Variant:600726.0006 | C1843096 607778 Acrocapitofemoral dysplasia | | | NM_002181.3(IHH):c.137C>T (p.Pro46Leu) | 3549 | IHH | Pathogenic | 121917856 | RCV000009420; | N | MedGen:C1843096,OMIM:607778,ORPHA:63446 | 2 | 219925053 | 219925053 | NM_002181.3:c.137C>T | NP_002172.2:p.Pro46Leu | NC_000002.11:g.219925053G>A | OMIM Allelic Variant:600726.0005 | C1843096 607778 Acrocapitofemoral dysplasia | | |
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