All terms in MONDO_RARE

Label Id Description
diabetes mellitus, permanent neonatal 3 MONDO_0030088
diabetes mellitus, permanent neonatal 2 MONDO_0030087
KNG1 6383
ANG 483
NAGLU 7632
NAGA 7631
PIK3CD 8977
PIK3R1 8979
ALMS1 428
SETX 445
ALS2 443
Heinz body anemia MONDO_0007705
hemolytic anemia MONDO_0003664 [Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.]
heart-hand syndrome type 3 MONDO_0007702 [Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.]
Holt-Oram syndrome MONDO_0007732 [Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.]
hawkinsinuria MONDO_0007700 [Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.]
disorder of tyrosine metabolism MONDO_0017307
progressive familial heart block type II MONDO_0007701
progressive familial heart block MONDO_0019490 [A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.]
NBN 7652