All terms in MONDO_RARE

Label Id Description
autosomal dominant osteopetrosis MONDO_0020645 [Autosomal dominant form of osteopetrosis (disease).]
intellectual disability, autosomal dominant 58 MONDO_0020847
autosomal dominant non-syndromic intellectual disability MONDO_0015802 [Autosomal dominant form of non-syndromic intellectual disability.]
intellectual disability, autosomal recessive 64 MONDO_0020846
autosomal recessive non-syndromic intellectual disability MONDO_0019502 [Autosomal recessive form of non-syndromic intellectual disability.]
solid pseudopapillary carcinoma of pancreas MONDO_0018525 [A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.]
exocrine pancreatic carcinoma MONDO_0005192 [A carcinoma that arises from epithelial cells of the exocrine pancreas]
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO_0020845
progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO_0000090
athyreosis MONDO_0019855 [Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
generalized resistance to thyroid hormone MONDO_0009043 [A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.]
idiopathic congenital hypothyroidism MONDO_0019858 [Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.]
congenital hypothyroidism MONDO_0018612 [A thyroid hormone deficiency present from birth.]
idiopathic disease MONDO_0700007 [A disease or disorder for which the cause is of uncertain or unknown.]
pseudomembranous diphtheritic conjunctivitis MONDO_0020843 [Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.]
diphtheria MONDO_0005504 [A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.]
pseudomembranous conjunctivitis MONDO_0001217 [Conjunctivitis that is characterized by formation of a pseudomembrane.]
congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies MONDO_0019857 [Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.]
transient congenital hypothyroidism due to maternal factor MONDO_0016555
snijders blok-fisher syndrome MONDO_0032830