CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
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C0000768 | has_associated_morphology | C0242387 | Congenital Abnormality | Mandibulofacial Dysostosis | Malformations of organs or body parts during development in utero. | A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treache... |
C0000768 | has_associated_morphology | C0263637 | Congenital Abnormality | Angioma serpiginosum | Malformations of organs or body parts during development in utero. | A reddish, punctate macular cutaneous lesion that consists of dilated capillaries in the papillary dermis and manifests during childhood. It grows in a serpiginous pattern. |
C0000768 | has_associated_morphology | C0263638 | Congenital Abnormality | Angiokeratoma circumscriptum | Malformations of organs or body parts during development in utero. | An angiokeratoma that usually affects the lower extremities and manifests as a solitary hyperkeratotic papule or nodule. |
C0000768 | has_associated_morphology | C0263886 | Congenital Abnormality | Klippel's disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265198 | Congenital Abnormality | Multiple system malformation syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265199 | Congenital Abnormality | Multiple malformation syndrome, small stature, without skeletal dysplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265201 | Congenital Abnormality | De Sanctis-Cacchione syndrome | Malformations of organs or body parts during development in utero. | A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
C0000768 | has_associated_morphology | C0265202 | Congenital Abnormality | Seckel syndrome | Malformations of organs or body parts during development in utero. | A syndrome of proportionate dwarfism, delayed mental development, microcephaly, and typical facial appearance marked by a birdlike protrusion of midfacial structures. |
C0000768 | has_associated_morphology | C0265204 | Congenital Abnormality | Multiple malformation syndrome, moderate short stature, facial | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265205 | Congenital Abnormality | Robinow Syndrome | Malformations of organs or body parts during development in utero. | A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessiv... |
C0000768 | has_associated_morphology | C0265206 | Congenital Abnormality | Dolichocephalic dwarfism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265207 | Congenital Abnormality | Bovine achondroplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265207 | Congenital Abnormality | Bovine achondroplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265208 | Congenital Abnormality | Multiple malformation syndrome with senile-like appearance | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265209 | Congenital Abnormality | Multiple malformation syndrome with early overgrowth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265210 | Congenital Abnormality | Weaver syndrome | Malformations of organs or body parts during development in utero. | Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. |
C0000768 | has_associated_morphology | C0265211 | Congenital Abnormality | Marshall-Smith syndrome | Malformations of organs or body parts during development in utero. | A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, propt... |
C0000768 | has_associated_morphology | C0265212 | Congenital Abnormality | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265213 | Congenital Abnormality | Distal arthrogryposis syndrome | Malformations of organs or body parts during development in utero. | A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include... |
C0000768 | has_associated_morphology | C0265214 | Congenital Abnormality | Inherited arthrogryposis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265215 | Congenital Abnormality | Meckel-Gruber syndrome | Malformations of organs or body parts during development in utero. | A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) m... |
C0000768 | has_associated_morphology | C0265216 | Congenital Abnormality | X-linked hydrocephalus syndrome | Malformations of organs or body parts during development in utero. | A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 s... |
C0000768 | has_associated_morphology | C0265218 | Congenital Abnormality | Neu-Laxova syndrome | Malformations of organs or body parts during development in utero. | A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive man... |
C0000768 | has_associated_morphology | C0265220 | Congenital Abnormality | Pallister-Hall syndrome | Malformations of organs or body parts during development in utero. | A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FAC... |
C0000768 | has_associated_morphology | C0265221 | Congenital Abnormality | Walker-Warburg congenital muscular dystrophy | Malformations of organs or body parts during development in utero. | Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of relate... |
C0000768 | has_associated_morphology | C0265222 | Congenital Abnormality | Royer Syndrome | Malformations of organs or body parts during development in utero. | An association of DIABETES MELLITUS with Prader-Willi Syndrome. |
C0000768 | has_associated_morphology | C0265223 | Congenital Abnormality | Cohen syndrome | Malformations of organs or body parts during development in utero. | A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
C0000768 | has_associated_morphology | C0265224 | Congenital Abnormality | Freeman-Sheldon syndrome | Malformations of organs or body parts during development in utero. | A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. |
C0000768 | has_associated_morphology | C0265226 | Congenital Abnormality | Hecht syndrome (disorder) | Malformations of organs or body parts during development in utero. | A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus. |
C0000768 | has_associated_morphology | C0265227 | Congenital Abnormality | Schinzel-Giedion syndrome | Malformations of organs or body parts during development in utero. | Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. |
C0000768 | has_associated_morphology | C0265228 | Congenital Abnormality | Pena-Shokeir phenotype | Malformations of organs or body parts during development in utero. | An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. |
C0000768 | has_associated_morphology | C0265229 | Congenital Abnormality | Crooked calf syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265229 | Congenital Abnormality | Crooked calf syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265230 | Congenital Abnormality | Multiple malformation syndrome with facial defects as major feature | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265231 | Congenital Abnormality | Cleft lip sequence | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265234 | Congenital Abnormality | Branchio-Oto-Renal Syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep... |
C0000768 | has_associated_morphology | C0265235 | Congenital Abnormality | Marshall syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall s... |
C0000768 | has_associated_morphology | C0265238 | Congenital Abnormality | Grob's syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265239 | Congenital Abnormality | Wildervanck's syndrome | Malformations of organs or body parts during development in utero. | Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. |
C0000768 | has_associated_morphology | C0265240 | Congenital Abnormality | Goldenhar Syndrome | Malformations of organs or body parts during development in utero. | Mandibulofacial dysostosis with congenital eyelid dermoids. |
C0000768 | has_associated_morphology | C0265241 | Congenital Abnormality | Franceschetti-Klein syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265242 | Congenital Abnormality | Otocephaly | Malformations of organs or body parts during development in utero. | A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck. |
C0000768 | has_associated_morphology | C0265244 | Congenital Abnormality | Multiple malformation syndrome with facial-limb defects as major feature | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265245 | Congenital Abnormality | Nager syndrome | Malformations of organs or body parts during development in utero. | A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. |
C0000768 | has_associated_morphology | C0265246 | Congenital Abnormality | Townes syndrome | Malformations of organs or body parts during development in utero. | A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. |
C0000768 | has_associated_morphology | C0265248 | Congenital Abnormality | Ruvalcaba Syndrome | Malformations of organs or body parts during development in utero. | Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic gen... |
C0000768 | has_associated_morphology | C0265249 | Congenital Abnormality | Mental retardation Mietens Weber type | Malformations of organs or body parts during development in utero. | Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. |
C0000768 | has_associated_morphology | C0265251 | Congenital Abnormality | Oto-Palato-digital syndrome type 1 | Malformations of organs or body parts during development in utero. | The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant ... |
C0000768 | has_associated_morphology | C0265252 | Congenital Abnormality | Coffin-Lowry syndrome | Malformations of organs or body parts during development in utero. | A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations. |
C0000768 | has_associated_morphology | C0265253 | Congenital Abnormality | Stickler syndrome (disorder) | Malformations of organs or body parts during development in utero. | A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct fo... |
C0000768 | has_associated_morphology | C0265255 | Congenital Abnormality | Trichorhinophalangeal syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265257 | Congenital Abnormality | Genee-Wiedemann syndrome | Malformations of organs or body parts during development in utero. | A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia. |
C0000768 | has_associated_morphology | C0265258 | Congenital Abnormality | Multiple malformation syndrome with limb defect as major feature | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265260 | Congenital Abnormality | Chondrodysplasia, Grebe type | Malformations of organs or body parts during development in utero. | A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dyspl... |
C0000768 | has_associated_morphology | C0265261 | Congenital Abnormality | Autosomal recessive multiple pterygium syndrome | Malformations of organs or body parts during development in utero. | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Add... |
C0000768 | has_associated_morphology | C0265262 | Congenital Abnormality | Limb reduction-ichthyosis syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265263 | Congenital Abnormality | Femoral hypoplasia - unusual facies syndrome | Malformations of organs or body parts during development in utero. | Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. |
C0000768 | has_associated_morphology | C0265264 | Congenital Abnormality | Holt-Oram syndrome | Malformations of organs or body parts during development in utero. | Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a ... |
C0000768 | has_associated_morphology | C0265265 | Congenital Abnormality | Aase syndrome | Malformations of organs or body parts during development in utero. | Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. |
C0000768 | has_associated_morphology | C0265267 | Congenital Abnormality | Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | Malformations of organs or body parts during development in utero. | A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cel... |
C0000768 | has_associated_morphology | C0265269 | Congenital Abnormality | Lacrimoauriculodentodigital syndrome | Malformations of organs or body parts during development in utero. | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present ... |
C0000768 | has_associated_morphology | C0265279 | Congenital Abnormality | Kniest dysplasia | Malformations of organs or body parts during development in utero. | Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). |
C0000768 | has_associated_morphology | C0265281 | Congenital Abnormality | Metatropic dwarfism | Malformations of organs or body parts during development in utero. | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
C0000768 | has_associated_morphology | C0265282 | Congenital Abnormality | Fibrochondrogenesis | Malformations of organs or body parts during development in utero. | Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness... |
C0000768 | has_associated_morphology | C0265286 | Congenital Abnormality | Dyggve-Melchior-Clausen syndrome | Malformations of organs or body parts during development in utero. | A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations ... |
C0000768 | has_associated_morphology | C0265291 | Congenital Abnormality | Kenny-Caffey syndrome | Malformations of organs or body parts during development in utero. | A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, micropht... |
C0000768 | has_associated_morphology | C0265292 | Congenital Abnormality | Schwartz-Lelek syndrome | Malformations of organs or body parts during development in utero. | Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
C0000768 | has_associated_morphology | C0265293 | Congenital Abnormality | Frontometaphyseal dysplasia | Malformations of organs or body parts during development in utero. | A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. |
C0000768 | has_associated_morphology | C0265295 | Congenital Abnormality | Jansen type metaphyseal chondrodysplasia | Malformations of organs or body parts during development in utero. | A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphate... |
C0000768 | has_associated_morphology | C0265299 | Congenital Abnormality | Immunodeficiency with short-limbed stature | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265300 | Congenital Abnormality | Osteochondrodysplasia with osteopetrosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265301 | Congenital Abnormality | Sclerosteosis | Malformations of organs or body parts during development in utero. | Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing... |
C0000768 | has_associated_morphology | C0265321 | Congenital Abnormality | Wyburn-Mason syndrome | Malformations of organs or body parts during development in utero. | A rare, congenital non-hereditary syndrome that manifests with multiple, often large arteriovenous malformations predominantly in the retina, brain, orbit, and facial structures. |
C0000768 | has_associated_morphology | C0265326 | Congenital Abnormality | Bannayan-Riley-Ruvalcaba Syndrome | Malformations of organs or body parts during development in utero. | A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
C0000768 | has_associated_morphology | C0265335 | Congenital Abnormality | XTE syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265338 | Congenital Abnormality | Coffin-Siris syndrome | Malformations of organs or body parts during development in utero. | A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide... |
C0000768 | has_associated_morphology | C0265339 | Congenital Abnormality | Borjeson-Forssman-Lehmann syndrome | Malformations of organs or body parts during development in utero. | Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. |
C0000768 | has_associated_morphology | C0265341 | Congenital Abnormality | Rieger syndrome | Malformations of organs or body parts during development in utero. | Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalie... |
C0000768 | has_associated_morphology | C0265342 | Congenital Abnormality | Cerebrocostomandibular Syndrome | Malformations of organs or body parts during development in utero. | Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. |
C0000768 | has_associated_morphology | C0265343 | Congenital Abnormality | Jarcho-Levin syndrome | Malformations of organs or body parts during development in utero. | A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. |
C0000768 | has_associated_morphology | C0265344 | Congenital Abnormality | Donohue Syndrome | Malformations of organs or body parts during development in utero. | Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death. |
C0000768 | has_associated_morphology | C0265345 | Congenital Abnormality | Lymphedema distichiasis syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis. |
C0000768 | has_associated_morphology | C0265347 | Congenital Abnormality | VACTEL syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265348 | Congenital Abnormality | Duhamel's syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265349 | Congenital Abnormality | Dwarfism stiff joint ocular abnormalities | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265350 | Congenital Abnormality | Kundrat's syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265351 | Congenital Abnormality | SPECTRA OF DEFECTS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265352 | Congenital Abnormality | MISCELLANEOUS ASSOCIATIONS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265353 | Congenital Abnormality | MVRCS association | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265354 | Congenital Abnormality | CHARGE Syndrome | Malformations of organs or body parts during development in utero. | Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. |
C0000768 | has_associated_morphology | C0265355 | Congenital Abnormality | Malformation sequence | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265361 | Congenital Abnormality | Athyrotic hypothyroidism sequence | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265362 | Congenital Abnormality | Jugular lymphatic obstruction sequence | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265363 | Congenital Abnormality | Urethral obstruction sequence | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265366 | Congenital Abnormality | Allemann's syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265370 | Congenital Abnormality | Multiple malformation syndrome due to non-infectious environmental agents | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265372 | Congenital Abnormality | Fetal hydantoin syndrome | Malformations of organs or body parts during development in utero. | A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and ... |
C0000768 | has_associated_morphology | C0265373 | Congenital Abnormality | Fetal trimethadione syndrome | Malformations of organs or body parts during development in utero. | A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less co... |
C0000768 | has_associated_morphology | C0265374 | Congenital Abnormality | Warfarin syndrome | Malformations of organs or body parts during development in utero. | Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the ... |
C0000768 | has_associated_morphology | C0265376 | Congenital Abnormality | Fetal methyl mercury syndrome | Malformations of organs or body parts during development in utero. | A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. |
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