All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormality of the back musculature | HP_0410168 | [Any abnormality of the back muscles.] |
| Abnormal morphology of the chest musculature | HP_0410167 | [Any abnormality of the chest muscles.] |
| Centrally nucleated skeletal muscle fibers | HP_0003687 | [An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).] |
| Skin dimple over apex of long bone angulation | HP_0001024 | |
| regulation of cellular amine metabolic process | GO_0033238 | [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines.] |
| Abnormal morphology of the shoulder musculature | HP_0410169 | [Any abnormality of the shoulder muscles.] |
| Nonprogressive | HP_0003680 | |
| Large beaked nose | HP_0003683 | |
| Defective interstrand cross-link repair | HP_0410166 | [A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.] |
| Variable progression rate | HP_0003682 | |
| Warfarin-induced skin necrosis | HP_0001038 | |
| Atheroeruptive xanthoma | HP_0001039 | |
| Facial flushing after alcohol intake | HP_0001033 | |
| Flushing | HP_0031284 | [Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.] |
| Absent epiphysis of the distal phalanx of the 5th finger | HP_0003696 | [Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.] |
| Increased level of N-acetylneuraminic acid in fibroblasts | HP_0410157 | [An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.] |
| Increased level of N-acetylneuraminic acid in urine | HP_0410156 | [An increase in the level of N-acetylneuraminic acid in the urine.] |
| Difficulty standing | HP_0003698 | |
| Scapuloperoneal amyotrophy | HP_0003697 | [Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.] |
| Increased level of O-phosphoethanolamine in urine | HP_0410158 | [An increase in the level of O-phosphoethanolamine in the urine.] |