| Disease Browser
|
Parent Node:
 Abnormalities, Multiple (D000015) | Parent Node:
Cleft Palate (D002972) | Parent Node:
Facies (D019066) | Parent Node:
Growth Disorders (D006130) | Parent Node:
Micrognathism (D008844) | ..Starting node
.. Crumpled helices and small mouth (C536217)
|
Child Nodes:
|
Sister Nodes: | ..Baetz-Greenwalt syndrome (C537795)
| ..Bird headed dwarfism Montreal type (C535448)
| ..Cerebral Cavernous Malformations 2 (C566394)
| ..Cerebral Cavernous Malformations 3 (C566393)
| ..Cerebrocostomandibular Syndrome (C562538)
| ..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
| ..Coffin-Siris syndrome (C536436)
| ..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
| ..Crumpled helices and small mouth (C536217)
| ..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
| ..Genee-Wiedemann syndrome (C537680)
| ..Genito palato cardiac syndrome (C537683)
| ..Ho Kaufman Mcalister syndrome (C538325)
| ..Limb Deficiencies, Distal, with Micrognathia (C565437)
| ..Meier-Gorlin syndrome (C538012)
| ..Milner Khallouf Gibson syndrome (C537473)
| ..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
| ..Schweitzer Kemink Graham syndrome (C536511)
| ..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
| ..Yunis Varon syndrome (C536719)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 2868 |
| Name: | Crumpled helices and small mouth |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000015|MESH:D002972|MESH:D006130|MESH:D008844|MESH:D019066 |
| TreeNumbers: | C05.500.460.185/C536217 |C05.500.460.457/C536217 |C05.660.207.540.460.185/C536217 |C05.660.207.540.460.457/C536217 |C07.320.440.185/C536217 |C07.320.440.457/C536217 |C07.465.525.185/C536217 |C07.650.500.460.185/C536217 |C07.650.500.460.457/C536217 |C07.650.525.18 |
| Synonyms: | Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay |
| Slim Mappings: | Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) |
| Reference: |
MedGen: C536217
MeSH: C536217
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
