| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000268 | Dolichocephaly | |
Show
|
| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000773 | Short ribs | |
Show
|
| HP:0000774 | Narrow chest | |
Show
|
| HP:0000882 | Hypoplastic scapulae | |
Show
|
| HP:0000895 | Hooked clavicles | |
Show
|
| HP:0000907 | Anterior rib cupping | |
Show
|
| HP:0000946 | Hypoplastic ilia | |
Show
|
| HP:0000947 | Dumbbell-shaped long bones | |
Show
|
| HP:0001004 | Lymphedema | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0003025 | Irregular metaphyses | |
Show
|
| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
Show
|
| HP:0003180 | Flat acetabular roofs | |
Show
|
| HP:0003300 | Ovoid vertebral bodies | |
Show
|
| HP:0003826 | Stillborn or neonatal death | |
Show
|
| HP:0004233 | Advanced maturation/advanced ossification of carpal bones | |
Show
|
| HP:0005019 | Diaphyseal thickening | |
Show
|
| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
Show
|
| HP:0008108 | Advanced tarsal ossification | |
Show
|
| HP:0008479 | Hypoplastic vertebral bodies | |
Show
|
| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
Show
|
| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
Show
|
| HP:0012107 | Increased fibular diameter | "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] |
Show
|
| HP:0031026 | Snail-like ilia | "The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature." [PMID:3799723] |
Show
|
