All terms in MONDO_RARE

Label Id Description
KRT16 6423
multiple system atrophy MONDO_0007803 [Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.]
synucleinopathy MONDO_0000510 [A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]]
movement disorder MONDO_0005395 [Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.]
Pallister-Hall syndrome MONDO_0007804 [Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.]
polydactyly-syndactyly-triphalangism MONDO_0800066 [Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.]
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO_0015160
non-acquired combined pituitary hormone deficiency MONDO_0018762 [Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.]
syndromic disease MONDO_0002254 [A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.]
NEU1 7758
hypospadias 3, autosomal MONDO_0007802
hypospadias MONDO_0005345 [Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.]
KRT17 6427
chromosome 18p deletion syndrome MONDO_0007800 [Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.]
partial deletion of chromosome 18 MONDO_0016880
ichthyosis histrix, Lambert type MONDO_0007809
ichthyosis hystrix MONDO_0859383
ichthyosis hystrix of Curth-Macklin MONDO_0007808 [Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).]
keratinopathic ichthyosis MONDO_0017266
NF1 7765