All terms in MONDO_RARE

Label Id Description
periventricular nodular heterotopia 9 MONDO_0030061
periventricular nodular heterotopia MONDO_0020341 [Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.]
Treacher Collins syndrome 4 MONDO_0030067
Treacher-Collins syndrome MONDO_0002457 [A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.]
hyper-IgE recurrent infection syndrome 5, autosomal recessive MONDO_0030069
episodic ataxia, type 9 MONDO_0030064
hereditary episodic ataxia MONDO_0016227 [Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.]
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO_0030063
granulomatous disease, chronic, autosomal recessive, 5 MONDO_0030066
chronic granulomatous disease MONDO_0018305 [Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.]
NDUFB3 7698
NDUFA6 7690
NDUFA9 7693
HNRNPA1 5031
KLKB1 6371
sudden sensorineural hearing loss MONDO_0043373 [Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.]
sensorineural hearing loss disorder MONDO_0020678 [Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).]
sudden hearing loss disorder MONDO_0020677
diabetes mellitus, permanent neonatal 4 MONDO_0030089
permanent neonatal diabetes mellitus MONDO_0100164 [Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.]