All terms in HP
| Label | Id | Description |
|---|---|---|
| Dumbbell-shaped long bone | HP_0000947 | [An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.] |
| Metaphyseal widening | HP_0003016 | [Abnormal widening of the metaphyseal regions of long bones.] |
| pectoral appendage cartilage tissue | UBERON_0007390 | [A cartilage tissue that is part of a pectoral appendage.] |
| pectoral appendage skeleton | UBERON_0007272 | [Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle.] |
| Dysostosis multiplex | HP_0000943 | |
| Abnormality of the integument | HP_0001574 | [An abnormality of the integument, which consists of the skin and the superficial fascia.] |
| Jaundice | HP_0000952 | [Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.] |
| Dermatological manifestations of systemic disorders | HP_0001005 | |
| Cafe-au-lait spot | HP_0000957 | [Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.] |
| Dry skin | HP_0000958 | [Skin characterized by the lack of natural or normal moisture.] |
| Abnormality of skin pigmentation | HP_0001000 | [An abnormality of the pigmentation of the skin.] |
| Single transverse palmar crease | HP_0000954 | [The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.] |
| Acanthosis nigricans | HP_0000956 | [A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.] |
| Epidermal thickening | HP_0011368 | [Thickening of the epidermal layer of the skin.] |
| Sacral dimple | HP_0000960 | [A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.] |
| Skin dimple | HP_0010781 | [Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.] |
| Sacrococcygeal pilonidal abnormality | HP_0010767 | [The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.] |
| Cyanosis | HP_0000961 | [Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.] |
| Thin skin | HP_0000963 | [Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.] |
| Aplasia/Hypoplasia of the skin | HP_0008065 |