Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| PEO14 | EFO_0005446 | |
| Deafness - epiphyseal dysplasia - short stature | Orphanet_3218 | |
| Ehlers-Danlos syndrome, cardiac valvular type | MONDO_0009159 | [Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.] |
| Deafness - small bowel diverticulosis - neuropathy | Orphanet_3217 | |
| Ehlers-Danlos syndrome, fibronectinemic type | MONDO_0009158 | [Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.] |
| PEO6 | EFO_0005449 | |
| ectrodactyly-polydactyly syndrome | MONDO_0009156 | [A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.] |
| obsolete_deaf blind hypopigmentation syndrome, Yemenite type | Orphanet_3214 | |
| EEM syndrome | MONDO_0009155 | [EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).] |
| trigonocephaly-bifid nose-acral anomalies syndrome | MONDO_0010154 | [Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.] |
| trichoodontoonychial dysplasia | MONDO_0010153 | [Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.] |
| Troyer syndrome | MONDO_0010156 | [Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.] |
| Ellis-van Creveld syndrome | MONDO_0009162 | [Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.] |
| Dorfman-Chanarin disease | MONDO_0010155 | |
| neutral lipid storage disease | MONDO_0015611 | [Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.] |
| Decreased intestinal transit time | HP_0030897 | [A reduction in the length of time required for food to pass through the intestines.] |
| Ehlers-Danlos syndrome, dermatosparaxis type | MONDO_0009161 | [A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.] |
| mismatch repair cancer syndrome 1 | MONDO_0010159 | [A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.] |
| Spina bifida occulta | HP_0003298 | [The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.] |
| Bufo marinus | NCBITaxon_8386 |