All terms in HP

Label Id Description
Requires heterozygosity HP_0034343 [A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females.]
Inheritance qualifier HP_0034335 [The terms in this hierarchy can be used to specify the context in which inheritance of a disease is typically observed.]
Bullet-shaped 4th toe phalanx HP_0010373 [An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.]
Female-limited expression HP_0034344 [Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex.]
Sex-limited expression HP_0001470 [Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.]
Triangular shaped phalanges of the 4th toe HP_0010378
negative regulation of vitamin metabolic process GO_0046137 [Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.]
Duplication of phalanx of the 4th toe HP_0010379 [Partial or complete duplication of phalanx of fourth toe.]
Nesidioblastosis HP_0034346 [An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.]
animal organ maturation GO_0048799 [A developmental process, independent of morphogenetic (shape) change, that is required for an animal organ to attain its fully functional state. An organ is a tissue or set of tissues that work together to perform a specific function or functions.]
Patchy sclerosis of 4th toe phalanx HP_0010376 [Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.]
Greater auricular nerve thickening HP_0034347 [Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.]
Abnormal great auricular nerve morphology HP_3000048 [Any structural anomaly of a great auricular nerve.]
Symphalangism affecting the phalanges of the 4th toe HP_0010377
Subpulmonary stenosis HP_0034348 [A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.]
Abnormal morphology of the proximal phalanx of the 3rd toe HP_0010370 [An anomaly of the proximal phalanx of third toe.]
Abnormality of the phalanges of the 3rd toe HP_0010330
galactose CHEBI_28260 [An aldohexose that is the C-4 epimer of glucose.]
Aplasia/Hypoplasia of the phalanges of the 4th toe HP_0010371
Pseudoautosomal dominant inheritance HP_0034340 [A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype.]