| HPO |
HP:0001437 |
Abnormality of the musculature of the lower limbs |
— |
— |
HP:0002814, HP:0009127 |
| HPO |
HP:0001438 |
Abnormal abdomen morphology |
"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] |
— |
HP:0025031 |
| HPO |
HP:0001440 |
Metatarsal synostosis |
— |
— |
HP:0001832, HP:0009140, HP:0100265 |
| HPO |
HP:0001441 |
Abnormality of the musculature of the thigh |
— |
— |
HP:0001437 |
| HPO |
HP:0001442 |
Somatic mosaicism |
"The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations." [HPO:probinson, PMID:12360233] |
— |
HP:0001428 |
| HPO |
HP:0001443 |
Abnormality of the gluteal musculature |
— |
— |
HP:0001469 |
| HPO |
HP:0001444 |
Autosomal dominant somatic cell mutation |
"Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body." [] |
— |
HP:0000006 |
| HPO |
HP:0001445 |
Abnormality of the hip-girdle musculature |
— |
— |
HP:0001469 |
| HPO |
HP:0001446 |
Abnormality of the musculature of the upper limbs |
— |
— |
HP:0002817, HP:0009127 |
| HPO |
HP:0001449 |
Duplication of metatarsal bones |
— |
— |
HP:0001832, HP:0009136 |
| HPO |
HP:0001450 |
Y-linked inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] |
— |
HP:0010985 |
| HPO |
HP:0001452 |
Autosomal dominant contiguous gene syndrome |
— |
— |
HP:0000006, HP:0001466 |
| HPO |
HP:0001454 |
Abnormality of the upper arm |
— |
— |
HP:0002817 |
| HPO |
HP:0001457 |
Abnormality of the musculature of the upper arm |
— |
— |
HP:0001446, HP:0001454 |
| HPO |
HP:0001459 |
1-3 toe syndactyly |
"Syndactyly with fusion of toes one to three." [HPO:sdoelken] |
— |
HP:0001770 |
| HPO |
HP:0001460 |
Aplasia/Hypoplasia involving the skeletal musculature |
"Absence or underdevelopment of the musculature." [HPO:curators] |
— |
HP:0030236 |
| HPO |
HP:0001464 |
Aplasia/Hypoplasia involving the shoulder musculature |
"Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] |
— |
HP:0001435, HP:0001467 |
| HPO |
HP:0001465 |
Amyotrophy involving the shoulder musculature |
— |
— |
HP:0001435 |
| HPO |
HP:0001466 |
Contiguous gene syndrome |
— |
— |
HP:0000005 |
| HPO |
HP:0001467 |
Aplasia/Hypoplasia involving the musculature of the upper limbs |
"Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] |
— |
HP:0001446, HP:0009128 |
| HPO |
HP:0001468 |
Aplasia/Hypoplasia involving the musculature of the upper arm |
"Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] |
— |
HP:0001457, HP:0001467 |
| HPO |
HP:0001469 |
Abnormal morphology of the pelvis musculature |
— |
— |
HP:0011805 |
| HPO |
HP:0001470 |
Sex-limited autosomal dominant |
— |
— |
HP:0000006 |
| HPO |
HP:0001471 |
Aplasia/Hypoplasia of the musculature of the pelvis |
— |
— |
HP:0001469 |
| HPO |
HP:0001472 |
obsolete Familial predisposition |
— |
— |
— |