All terms in DOID

Label Id Description
obsolete Balamuthia mandrillaris infectious disease DOID_0050233 [A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.]
Kagami-Ogata syndrome DOID_0111712 [A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.]
Temple syndrome DOID_0111713 [A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.]
focal or diffuse nonepidermolytic palmoplantar keratoderma DOID_0111710 [A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.]
focal nonepidermolytic palmoplantar keratoderma 2 DOID_0111711 [A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.]
focal nonepidermolytic palmoplantar keratoderma DOID_0111708 [A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.]
partial cryptophthalmia DOID_0111718 [An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.]
isolated cryptophthalmia DOID_0111717 [A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.]
complete cryptophthalmia DOID_0111719 [An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket.]
cryptophthalmia DOID_0111716 [A physical disorder characterized by ocular dysplasia with eyelid malformation.]
Mulchandani-Bhoj-Conlin syndrome DOID_0111714 [A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.]
Schaaf-Yang syndrome DOID_0111715 [A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.]
obsolete Heterolobosea infectious disease DOID_0050236 [A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.]
obsolete Alveolata infectious disease DOID_0050235 [A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.]
obsolete Parabasalia infectious disease DOID_0050238 [A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.]
obsolete metastatic tumor to the larynx DOID_2873
obsolete Euglenozoa infectious disease DOID_0050237 [A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.]
obsolete metastasis to the neck DOID_2874
obsolete Fornicata infectious disease DOID_0050239 [A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.]
larynx sarcoma DOID_2877 [A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.]