Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
mitochondrial DNA metabolic process	GO_0032042	[The chemical reactions and pathways involving mitochondrial DNA.]
DNA metabolic process	GO_0006259	[Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.]
mitochondrial genome maintenance	GO_0000002	[The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome.]
Dolichocephaly	HP_0000268	[An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.]
Prominent occiput	HP_0000269	[Increased convexity of the occiput (posterior part of the skull).]
Abnormal shape of the occiput	HP_0011217	[An abnormal shape of occiput.]
Oxycephaly	HP_0000263	[Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.]
Turricephaly	HP_0000262	[Tall head relative to width and length.]
Abnormality of the mastoid	HP_0000264	[An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.]
Mastoiditis	HP_0000265
Wide anterior fontanel	HP_0000260	[Enlargement of the anterior fontanelle with respect to age-dependent norms.]
Abnormality of the anterior fontanelle	HP_0000236	[An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.]
Large fontanelles	HP_0000239	[In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.]
Sex reversal	HP_0012245	[Development of the reproductive system is inconsistent with the chromosomal sex.]
Abnormal sex determination	HP_0012244	[Anomaly of primary or secondary sexual development or characteristics.]
Abnormal reproductive system morphology	HP_0012243	[A structural or developmental anomaly of any of the tissues involved in the genital system.]
Superior rectus atrophy	HP_0012242	[Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.]
Abnormality of the extraocular muscles	HP_0008049	[An abnormality of an extraocular muscle.]
Abnormal ST segment	HP_0012249	[An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.]
Abnormal EKG	HP_0003115	[Abnormal rhythm of the heart.]