All terms in MONDO_CLINGEN

Label Id Description
nemaline myopathy 8 MONDO_0014138 [An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.]
craniosynostosis MONDO_0015469 [Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.]
synostosis MONDO_0001411 [A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.]
agammaglobulinemia 3, autosomal recessive MONDO_0013288 [Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.]
agammaglobulinemia 4, autosomal recessive MONDO_0013289 [Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.]
neurofibromatosis type 1 MONDO_0018975 [A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.]
neurofibromatosis MONDO_0021061 [A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.]
RASopathy MONDO_0021060 [Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.]
neurocristopathy MONDO_0021635 [That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.]
non-acquired pituitary hormone deficiency MONDO_0019824
pituitary deficiency MONDO_0015127
hereditary endocrine growth disease MONDO_0015514
short rib-polydactyly syndrome MONDO_0015461 [Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).]
short rib dysplasia MONDO_0019691
thoracic malformation MONDO_0015929
isolated oxycephaly MONDO_0018971 [Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.]
isolated craniosynostosis MONDO_0015337 [A craniosynostosis that is not part of a larger syndrome.]
immunodeficiency, common variable, 3 MONDO_0013283
common variable immunodeficiency MONDO_0015517 [Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.]
COG4-congenital disorder of glycosylation MONDO_0013281 [COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.]