Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| GM12146 | EFO_0001138 | |
| GM12154 | EFO_0001139 | |
| metaphyseal chondrodysplasia, Kaitila type | MONDO_0009594 | [Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.] |
| spondylometaphyseal dysplasia, Sedaghatian type | MONDO_0009593 | [Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.] |
| metaphyseal acroscyphodysplasia | MONDO_0009592 | [Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.] |
| X-linked hypohidrotic ectodermal dysplasia | MONDO_0010585 | [An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.] |
| metachromatic leukodystrophy, juvenile form | MONDO_0009591 | [Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.] |
| X-linked Ehlers-Danlos syndrome | MONDO_0010586 | [Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.] |
| Aarskog-Scott syndrome, X-linked | MONDO_0010589 | [Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.] |
| faciodigitogenital syndrome | MONDO_0021005 | [A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.] |
| middle lateral line neuromast | UBERON_2000939 | [Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.).] |
| immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | MONDO_0010580 | [Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.] |
| autoimmune polyendocrinopathy | MONDO_0017278 | [A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.] |
| autoimmune enteropathy | MONDO_0019787 | [Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.] |
| Thumb stiffness - brachydactyly - intellectual disability | Orphanet_1078 | |
| Dental ankylosis | Orphanet_1077 | [Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.] |
| Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome | Orphanet_391307 | |
| Ankyloblepharon filiforme - imperforate anus | Orphanet_1074 | |
| Eyelid malformation | Orphanet_98561 | |
| Ankyloblepharon filiforme adnatum - cleft palate | Orphanet_1072 |