Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Hypomaturation amelogenesis imperfecta | Orphanet_100033 | |
| Hypocalcified amelogenesis imperfecta | Orphanet_100032 | |
| X-linked corneal dermoid | MONDO_0010579 | [X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.] |
| obsolete_hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | Orphanet_100034 | |
| metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | MONDO_0009599 | [Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.] |
| metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | MONDO_0009598 | |
| metaphyseal chondrodysplasia, Spahr type | MONDO_0009597 | |
| cartilage-hair hypoplasia | MONDO_0009595 | [Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.] |
| obsolete_renal-genital-middle ear anomalies | Orphanet_1092 | |
| Susceptibility to viral and mycobacterial infections | Orphanet_391311 | |
| focal dermal hypoplasia | MONDO_0010592 | [Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.] |
| fingerprint body myopathy | MONDO_0010591 | [Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.] |
| obsolete_short stature-heart defect-craniofacial anomalies syndrome | Orphanet_1088 | |
| obsolete_tubular duplication of the esophagus | Orphanet_100048 | |
| obsolete_infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | Orphanet_391316 | |
| obsolete_esophageal duplication cyst | Orphanet_100047 | |
| obsolete_microlissencephaly | Orphanet_1083 | |
| obsolete_isolated lissencephaly type 1 without known genetic defects | Orphanet_1084 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | Orphanet_100044 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type A | Orphanet_100043 |