All terms in HP
| Label | Id | Description |
|---|---|---|
| Hypoplasia of latissimus dorsi muscle | HP_0009026 | [Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.] |
| Absent epiphysis of the 1st metacarpal | HP_0010015 | |
| Iron accumulation in substantia nigra | HP_0012678 | [An anomalous build up of iron (Fe) in the substantia nigra.] |
| Iron accumulation in brain | HP_0012675 | [An abnormal build up of iron (Fe) in brain tissue.] |
| Abnormality of the substantia nigra | HP_0045007 | |
| Iron accumulation in globus pallidus | HP_0012677 | [An abnormal build up of iron (Fe) in the globus pallidus.] |
| Foot dorsiflexor weakness | HP_0009027 | [Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.] |
| Limb muscle weakness | HP_0003690 | [Reduced strength and weakness of the muscles of the arms and legs.] |
| Bracket epiphysis of the 1st metacarpal | HP_0010016 | [An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.] |
| Bracket metacarpal epiphyses | HP_0200050 | |
| Copper accumulation in brain | HP_0012676 | [An anomalous build up of copper (Cu) in the brain.] |
| Abnormal tissue metabolite concentration | HP_0032243 | [Any deviation from the normal concentration of a metabolite in a tissue.] |
| Generalized weakness of limb muscles | HP_0009028 | [Generalized weakness of the muscles of the arms and legs.] |
| Limb-girdle muscle weakness | HP_0003325 | [Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.] |
| monocyclic heteroarene | CHEBI_38179 | |
| Orthostatic syncope | HP_0012670 | [Syncope following a quick change in position from lying down to standing.] |
| nitrogen molecular entity | CHEBI_51143 | |
| nitrogen atom | CHEBI_25555 | |
| Bullet-shaped 1st metacarpal | HP_0010028 | [The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").] |
| Curved 1st metacarpal | HP_0010029 | [A deviation from the normal straight shape of the first metacarpal.] |