Aplasia/Hypoplasia of the ulna

Symptom Information:

Symptom ID: HPO:0006495
Synonyms:
Absent-hypoplastic ulnae [HPO:0006495]
Hypoplasia or unilateral/bilateral absence of ulna [HPO:0006495]
ulnar hypoplasia/aplasia [HPO:0006495]
Ulna hypoplasia [Orphanet:19300]
Ulna absence [Orphanet:19300]
Congenital hypoplasia of ulna (disorder) [Orphanet:19300]
Congenital absence of ulna (disorder) [Orphanet:19300]
Congenital hypoplasia of ulna [Orphanet:19300]
ULNAR HYPOPLASIA [Orphanet:19300]
Congenital absence of ulna [Orphanet:19300]
Absent-hypoplastic ulnae [OMIM:Absent-hypoplastic ulnae]
Hypoplasia or unilateral/bilateral absence of ulna [OMIM:Hypoplasia or unilateral/bilateral absence of ulna]
Ulnar hypoplasia/aplasia [OMIM:Ulnar hypoplasia/aplasia]
Ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray [Orphanet:19300]
Ulnar hypoplasia (some) [OMIM:Ulnar hypoplasia (some)]
Quality:
Cross references:
HPO:0003022 "Hypoplasia of the ulna" [Orphanet:19300]
HPO:0003982 "Absent ulna" [Orphanet:19300]
Orphanet:19300 "Ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray" [Orphanet:19300]
OMIM: "Absent-hypoplastic ulnae" [OMIM:Absent-hypoplastic ulnae]
OMIM: "Hypoplasia or unilateral/bilateral absence of ulna" [OMIM:Hypoplasia or unilateral/bilateral absence of ulna]
OMIM: "Ulnar hypoplasia/aplasia" [OMIM:Ulnar hypoplasia/aplasia]
OMIM: "Ulnar hypoplasia (some)" [OMIM:Ulnar hypoplasia (some)]
UMLS:C0685391 "Congenital hypoplasia of ulna" [Orphanet:19300]
UMLS:C1860614 "ULNAR HYPOPLASIA" [Orphanet:19300]
UMLS:C0431848 "Congenital absence of ulna" [Orphanet:19300]
Is a (Direct Parents):
HPO         Abnormality of the ulna
Orphanet Abnormality of the ulna
HPO         Aplasia/hypoplasia involving forearm bones
Orphanet Upper limb segmental anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia/Hypoplasia of the ulna(HPO:0006495)
                      Abnormality of the forearm(HPO:0002973)
                         Abnormality of the ulna(HPO:0002997)
                            Aplasia/Hypoplasia of the ulna(HPO:0006495)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia/Hypoplasia of the ulna(HPO:0006495)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia/Hypoplasia of the ulna(HPO:0006495)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                         Aplasia/Hypoplasia of the ulna(HPO:0006495)
MedDRA:
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

Atelosteogenesis type I (Orphanet:1190)
CHARGE syndrome (Orphanet:138)
Fuhrmann syndrome (Orphanet:2854)
SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 (OMIM:119100)
Thrombocytopenia - absent radius (Orphanet:3320)
Tibial aplasia - ectrodactyly (Orphanet:3329)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)