Term: Phocomelia
Accession: HP:0009829
browse the term
Definition: Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Synonyms: alt_id: HP:0002994
xref: MEDDRA:10034923 "Phocomelia"; MESH:D004480 ; SNOMEDCT_US:22841008; UMLS:C0031575
G
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
IAGP
HPO
OMIM:268300 ORPHA:3103
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
G
NIPBL
NIPBL cohesin loading factor
IAGP
HPO
OMIM:122470
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
G
RBM8A
RNA binding motif protein 8A
IAGP
HPO
OMIM:274000 ORPHA:3320
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
G
SF3B4
splicing factor 3b subunit 4
IAGP
HPO
ORPHA:245
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
G
TBX5
T-box transcription factor 5
IAGP
HPO
OMIM:142900 ORPHA:392
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
G
WNT7A
Wnt family member 7A
IAGP
HPO
OMIM:276820
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
G
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
IAGP
HPO
OMIM:268300
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
G
LBR
lamin B receptor
IAGP
HPO
OMIM:215140
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
G
LMBR1
limb development membrane protein 1
IAGP
HPO
ORPHA:931
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all