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Orphanet Rare Disease Ontology
| Preferred Name | Trichorhinophalangeal syndrome type 2 | |
| Synonyms |
Langer-Giedion syndrome |
|
| Definitions |
A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_502 |
|
| alternative_term |
Langer-Giedion syndrome
|
|
| definition |
A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses.
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| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502 |
|
| has_age_of_onset |
Childhood Infancy Neonatal
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|
| has_inheritance |
Autosomal dominant
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|
| hasDbXref |
ICD-11:LD24.80 MedDRA:10050638 ICD-10:Q87.8 OMIM:150230 MeSH:D015826 UMLS:C0023003
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|
| label |
Trichorhinophalangeal syndrome type 2
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|
| notation |
ORPHA:502
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_324764 http://www.orpha.net/ORDO/Orphanet_262065 |
|
| prefixIRI |
ORDO:Orphanet_502
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|
| prefLabel |
Trichorhinophalangeal syndrome type 2
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|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case)
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_324764 http://www.orpha.net/ORDO/Orphanet_262065 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_502 | CCONT | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_502 | HSPO | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_502 | EFO | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_502 | HOOM | SAME_URI |
| http://www.gamuts.net/entity#trichorhinophalangeal_dysplasia_type_2 | GAMUTS | REST |