Preferred Name |
Thanatophoric dysplasia, type 2 |
Synonyms |
Thanatophoric Dysplasia, Type Ii |
ID |
http://purl.bioontology.org/ontology/MESH/C536508 |
altLabel |
Thanatophoric Dysplasia, Type Ii Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull Cloverleaf skull with thanatophoric dwarfism Thanatophoric dysplasia with Kleeblattschaedel |
cui |
C1300257 |
Has mapping qualifier | |
HM |
D013796 D012886/Q000002 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20100825 |
MeSH Frequency |
11 |
MMR |
20131106 |
notation |
C536508 |
prefLabel |
Thanatophoric dysplasia, type 2 |
SC |
3 |
TERMUI |
T739551 T739550 T802441 T739549 T826885 |
TH |
ORD (2010) OMIM (2013) |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/134934 | Online Mendelian Inheritance in Man | CUI | |
http://purl.bioontology.org/ontology/OMIM/187601 | Online Mendelian Inheritance in Man | CUI |