All terms in HP_DEV

Label Id Description
cobamamide CHEBI_18408 [A member of the class of cobalamins that is vitamin B12 in which the cyano group is replaced by a 5'-deoxyadenos-5'-yl moiety. It is one of the two metabolically active form of vitamin B12.]
cobalamins CHEBI_23334
corrinoid CHEBI_33913 [A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions.]
Enlarged fossa interpeduncularis HP_0100951
Ventriculomegaly HP_0002119 [An increase in size of the ventricular system of the brain.]
Decreased 3-hydroxyacyl-CoA dehydrogenase level HP_0100950
Abnormal circulating enzyme concentration or activity HP_0012379 [Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.]
Abnormality of mitochondrial metabolism HP_0003287 [A functional anomaly of mitochondria.]
Enlarged interhemispheric fissure HP_0100953
Abnormal subarachnoid space morphology HP_0012703 [Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.]
Enlarged sylvian cistern HP_0100952 [An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).]
Giant cell granuloma of mandible HP_0100955
Abnormal mandible morphology HP_0000277 [Any abnormality of the mandible, the bone of the lower jaw.]
Open operculum HP_0100954 [Underdevelopment of the operculum.]
Cerebral hypoplasia HP_0006872 [Underdevelopment of the cerebrum.]
Abnormal cerebral cortex morphology HP_0002538 [Any structural abnormality of the cerebral cortex.]
Abnormal renal medulla morphology HP_0100957 [Any structural abnormality of the medulla of the kidney.]
Dense metaphyseal bands HP_0100959 [Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.]
Narrow foramen obturatorium HP_0100958 [Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.]
Abnormal ischium morphology HP_0003174 [An anomaly of the ischium, which forms the lower and back part of the hip bone.]