Disease Browser
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Parent Node: Abnormalities, Multiple (D000015) | Parent Node: Brachydactyly (D059327) | ..Starting node ..Cryptomicrotia brachydactyly syndrome (C536219)
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Sister Nodes: | ..Acrocapitofemoral Dysplasia (C564334)
| ..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
| ..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
| ..Berk-Tabatznik syndrome (C535432)
| ..Bork Stender Schmidt syndrome (C536576)
| ..Brachydactyly preaxial with hallux varus and thumb abduction (C537087)
| ..Brachydactyly type A1 (C537088)
| ..Brachydactyly type A2 (C537089)
| ..Brachydactyly type A3 (C537090)
| ..Brachydactyly type A5 nail dysplasia (C537091)
| ..Brachydactyly type A6 (C537092)
| ..Brachydactyly type C (C537093)
| ..Brachydactyly types B and E combined (C537094)
| ..Brachydactyly with hypertension (C537095)
| ..Brachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
| ..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
| ..Brachydactyly, Long-Thumb Type (C566204)
| ..Brachydactyly, Type A1, B (C564635)
| ..Brachydactyly, Type A2, With Microcephaly (C565894)
| ..Brachydactyly, Type B1 (C566196)
| ..BRACHYDACTYLY, TYPE B2 (OMIM:611377)
| ..Brachydactyly, Type D (C562420)
| ..Brachydactyly, Type E (C566194) 1
| ..Brachydactyly, Type E, with Atrial Septal Defect, Type II (C566193)
| ..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
| ..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
| ..Brachydactyly-Syndactyly Syndrome (C565193)
| ..Brachymesophalangy 2 and 5 (C537097)
| ..Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
| ..Coloboma of Macula and Skeletal Anomalies (C565686)
| ..Coloboma of macula type B brachydactyly (C535969)
| ..Cryptomicrotia brachydactyly syndrome (C536219)
| ..Digital Arthropathy-Brachydactyly, Familial (C564656)
| ..Exostoses with Anetodermia and Brachydactyly, Type E (C565034)
| ..Fibular aplasia ectrodactyly (C537930)
| ..Fibular hypoplasia and complex brachydactyly (C537931)
| ..Fitzsimmons-Guilbert syndrome (C537938)
| ..GOMBO syndrome (C537284)
| ..Heart-hand syndrome, Spanish type (C535853)
| ..Hirschsprung disease type d brachydactyly (C538319)
| ..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
| ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| ..Prata Libéral Gonçalves syndrome (C538277)
| ..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
| ..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
| ..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
| ..Sillence syndrome (C537338)
| ..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
| ..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
| ..Temtamy preaxial brachydactyly syndrome (C536958)
| ..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
| ..Tonoki syndrome (C536967)
| ..Ulnar/Fibular Ray Defect and Brachydactyly (C563905)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2878 |
Name: | Cryptomicrotia brachydactyly syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000015|MESH:D059327 |
TreeNumbers: | C05.660.585.262/C536219 |C16.131.077/C536219 |C16.131.621.585.262/C536219 |
Synonyms: | Cryptomicrotia-Brachydactyly Syndrome |Cryptomicrotia brachydactyly syndrome excess fingertip arch |Tonoki Ohura Niikawa syndrome |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease |
Reference: |
MedGen: C536219
MeSH: C536219
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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