All terms in DOID

Label Id Description
Meier-Gorlin syndrome 8 DOID_0080255 [A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.]
Meier-Gorlin syndrome DOID_0060306 [A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.]
blotchy red rash SYMP_0000743
Perrault syndrome 6 DOID_0080256 [A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11.]
Perrault syndrome DOID_0050857 [A syndrome that is characterized by sensorineural hearing loss and ovarian failure.]
cervical lymphadenopathy SYMP_0000744
autosomal recessive congenital ichthyosis 13 DOID_0080257 [An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.]
deprivation amblyopia DOID_10378 [An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar.]
amblyopia DOID_10376 [An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.]
refractive amblyopia DOID_10377 [An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).]
strabismic amblyopia DOID_10375 [An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye.]
rubella DOID_8781 [A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.]
obsolete hypogonadotropism DOID_7455
disseminated chorioretinitis DOID_8787
obsolete postherpetic polyneuropathy DOID_8785 [A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching.]
obsolete AIDS-related anal cancer DOID_6122 [An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS.]
nasal bleeding SYMP_0000741
acantholytic variant squamous cell breast carcinoma DOID_7459 [A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.]
gliomatosis cerebri DOID_6128 [A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.]
erythrokeratodermia variabilis et progressiva 4 DOID_0080250 [An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.]