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 ⌀ |
|---|---|---|---|---|---|---|
C0000768 | has_direct_morphology | C0191795 | Congenital Abnormality | Ligation of supernumerary fingers | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0192798 | Congenital Abnormality | Transposition of intestine (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0206115 | Congenital Abnormality | WAGR Syndrome | Malformations of organs or body parts during development in utero. | A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY. |
C0000768 | has_associated_morphology | C0206157 | Congenital Abnormality | Myopathies, Nemaline | Malformations of organs or body parts during development in utero. | A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may... |
C0000768 | has_associated_morphology | C0206728 | Congenital Abnormality | Plexiform Neurofibroma | Malformations of organs or body parts during development in utero. | A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is... |
C0000768 | has_associated_morphology | C0206733 | Congenital Abnormality | Strawberry nevus of skin | Malformations of organs or body parts during development in utero. | A dull red, firm, dome-shaped hemangioma, sharply demarcated from surrounding skin, usually located on the head and neck, which grows rapidly and generally undergoes regression and involution without scarring. It is caused by proliferation of immature capillary vessels in active stroma, and is usually present at birth ... |
C0000768 | has_associated_morphology | C0206762 | Congenital Abnormality | Limb Deformities, Congenital | Malformations of organs or body parts during development in utero. | Congenital structural deformities of the upper and lower extremities collectively or unspecified. |
C0000768 | has_associated_morphology | C0220686 | Congenital Abnormality | Aase Smith syndrome | Malformations of organs or body parts during development in utero. | A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
C0000768 | has_associated_morphology | C0221011 | Congenital Abnormality | Malignant Atrophic Papulosis | Malformations of organs or body parts during development in utero. | Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the inv... |
C0000768 | has_associated_morphology | C0221033 | Congenital Abnormality | Trisomy X syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal aberration characterized by the presence of three X (female) chromosomes. The condition does not exhibit a distinctive phenotype and majority of the affected females are physically and mentally normal. Abnormalities are infrequent and do not occur with any regularity--they include hypertelorism, epic... |
C0000768 | has_associated_morphology | C0221199 | Congenital Abnormality | Abnormal palmar creases | Malformations of organs or body parts during development in utero. | An abnormality of the creases of the skin of palm of hand. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0221213 | Congenital Abnormality | Congenital talipes equinus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0221214 | Congenital Abnormality | Vascular ring | Malformations of organs or body parts during development in utero. | Congenital vascular malformation in which the AORTA arch and its branches encircle the TRACHEA and ESOPHAGUS. Signs and symptoms include DYSPNEA; RESPIRATORY SOUNDS, especially with eating, DYSPHAGIA, persistent cough, and GASTROESOPHAGEAL REFLUX or may be asymptomatic. Two most common types are double aortic arch and ... |
C0000768 | has_associated_morphology | C0221215 | Congenital Abnormality | Common atrioventricular canal | Malformations of organs or body parts during development in utero. | Defects of endocardial cushions resulting in low atrial and high ventricular septal defects. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory ... |
C0000768 | has_associated_morphology | C0221354 | Congenital Abnormality | Frontal bossing | Malformations of organs or body parts during development in utero. | A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major. |
C0000768 | has_associated_morphology | C0221356 | Congenital Abnormality | Brachycephaly | Malformations of organs or body parts during development in utero. | Premature closing of both sides of the coronal sutures. |
C0000768 | has_associated_morphology | C0221357 | Congenital Abnormality | Brachydactyly | Malformations of organs or body parts during development in utero. | Congenital anomaly of abnormally short fingers or toes. |
C0000768 | has_associated_morphology | C0221359 | Congenital Abnormality | Anomalous origin of coronary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0221360 | Congenital Abnormality | Congenital absence of diaphragm | Malformations of organs or body parts during development in utero. | Congenital lack, i.e., aplasia of the diaphragm. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0221365 | Congenital Abnormality | Double ureter | Malformations of organs or body parts during development in utero. | A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0235658 | Congenital Abnormality | Macerated fetus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0235683 | Congenital Abnormality | Congenital brain damage | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0235801 | Congenital Abnormality | Congenital anomaly of jaw | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0235833 | Congenital Abnormality | Congenital diaphragmatic hernia | Malformations of organs or body parts during development in utero. | Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilizatio... |
C0000768 | has_associated_morphology | C0235861 | Congenital Abnormality | Congenital flaccid paralysis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0235864 | Congenital Abnormality | Congenital hypertrichosis lanuginosa | Malformations of organs or body parts during development in utero. | Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. |
C0000768 | has_associated_morphology | C0235947 | Congenital Abnormality | Muscle malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0236038 | Congenital Abnormality | Congenital hearing disorder | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0237994 | Congenital Abnormality | Sinus of Valsalva aneurysm with rupture | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0238288 | Congenital Abnormality | Muscular Dystrophy, Facioscapulohumeral | Malformations of organs or body parts during development in utero. | An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This t... |
C0000768 | has_associated_morphology | C0238506 | Congenital Abnormality | Congenital posterior urethral valves | Malformations of organs or body parts during development in utero. | A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. |
C0000768 | has_associated_morphology | C0238755 | Congenital Abnormality | Bathrocephaly | Malformations of organs or body parts during development in utero. | A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture. [PMID:21970727] |
C0000768 | has_associated_morphology | C0239054 | Congenital Abnormality | Coloboma of choroid | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0239849 | Congenital Abnormality | Harlequin Fetus | Malformations of organs or body parts during development in utero. | A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this g... |
C0000768 | has_associated_morphology | C0240765 | Congenital Abnormality | Acquired pectus carinatum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0240896 | Congenital Abnormality | Fundus coloboma | Malformations of organs or body parts during development in utero. | Absence of a region of the retina, retinal pigment epithelium, and choroid. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0242855 | Congenital Abnormality | Congenital atresia of pulmonary valve | Malformations of organs or body parts during development in utero. | A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breat... |
C0000768 | has_associated_morphology | C0243002 | Congenital Abnormality | Tricuspid Atresia | Malformations of organs or body parts during development in utero. | Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional. |
C0000768 | has_associated_morphology | C0259771 | Congenital Abnormality | Steatocystoma multiplex | Malformations of organs or body parts during development in utero. | A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex. |
C0000768 | has_associated_morphology | C0262475 | Congenital Abnormality | Congenital abnormality of Eustachian tube | Malformations of organs or body parts during development in utero. | A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it pr... |
C0000768 | has_associated_morphology | C0263383 | Congenital Abnormality | Keratosis pilaris | Malformations of organs or body parts during development in utero. | An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. [PMID:22628989, PMID:27194977, PMID:30043128] |
C0000768 | has_associated_morphology | C0263401 | Congenital Abnormality | Cutis marmorata | Malformations of organs or body parts during development in utero. | a variable physiological livedo reticularis |
C0000768 | has_associated_morphology | C0263426 | Congenital Abnormality | ulerythema | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0263427 | Congenital Abnormality | Ulerythema of cheeks | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0263428 | Congenital Abnormality | Burnett Schwartz Berberian syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0263429 | Congenital Abnormality | Atrophoderma vermiculatum | Malformations of organs or body parts during development in utero. | A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythem... |
C0000768 | has_associated_morphology | C0263489 | Congenital Abnormality | Pili annulati | Malformations of organs or body parts during development in utero. | A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of th... |
C0000768 | has_associated_morphology | C0263491 | Congenital Abnormality | Pili Torti | Malformations of organs or body parts during development in utero. | Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms). |
C0000768 | has_associated_morphology | C0263579 | Congenital Abnormality | Pigmented hairy epidermal nevus (disorder) | Malformations of organs or body parts during development in utero. | A benign lesion that is sometimes congenital and consists of an overgrowth of the epidermis and the presence of melanin-containing cells. It is found mostly in males and typically develops during childhood or adolescence, becoming darker and more hairy after puberty. |
C0000768 | has_associated_morphology | C0263580 | Congenital Abnormality | Ichthyosis hystrix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0263900 | Congenital Abnormality | Bertolotti's syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0264881 | Congenital Abnormality | Nodular calcific aortic valve stenosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265172 | Congenital Abnormality | Pericarditis secondary to Mulibrey nanism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265219 | Congenital Abnormality | Miller Dieker syndrome | Malformations of organs or body parts during development in utero. | Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. |
C0000768 | has_associated_morphology | C0265233 | Congenital Abnormality | Cryptophthalmos syndrome | Malformations of organs or body parts during development in utero. | Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. |
C0000768 | has_associated_morphology | C0265259 | Congenital Abnormality | Popliteal pterygium syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265308 | Congenital Abnormality | Baller-Gerold syndrome | Malformations of organs or body parts during development in utero. | Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). |
C0000768 | has_associated_morphology | C0265312 | Congenital Abnormality | Brachydactyly syndrome type E | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265313 | Congenital Abnormality | Weill-Marchesani syndrome | Malformations of organs or body parts during development in utero. | Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
C0000768 | has_associated_morphology | C0265316 | Congenital Abnormality | Neurocutaneous Syndromes | Malformations of organs or body parts during development in utero. | A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. |
C0000768 | has_associated_morphology | C0265319 | Congenital Abnormality | Fibrous skin tumor of tuberous sclerosis | Malformations of organs or body parts during development in utero. | Facial ANGIOFIBROMA in tuberous sclerosis |
C0000768 | has_associated_morphology | C0265323 | Congenital Abnormality | Peutz-Jeghers polyps of small bowel | Malformations of organs or body parts during development in utero. | A non-neoplastic hamartomatous polyp that arises from the small intestine. It is characterized by the presence of smooth muscle branching bands, and cystic mucosal changes. |
C0000768 | has_associated_morphology | C0265325 | Congenital Abnormality | Turcot syndrome (disorder) | Malformations of organs or body parts during development in utero. | An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medull... |
C0000768 | has_associated_morphology | C0265328 | Congenital Abnormality | Alopecia epilepsy oligophrenia syndrome of Moynahan | Malformations of organs or body parts during development in utero. | A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. |
C0000768 | has_associated_morphology | C0265331 | Congenital Abnormality | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265333 | Congenital Abnormality | Tricho-dento-osseous syndrome (disorder) | Malformations of organs or body parts during development in utero. | Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. |
C0000768 | has_associated_morphology | C0265336 | Congenital Abnormality | Senter syndrome | Malformations of organs or body parts during development in utero. | A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. |
C0000768 | has_associated_morphology | C0265357 | Congenital Abnormality | Polysplenia Syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265391 | Congenital Abnormality | Anomaly of chromosome pair 1 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265393 | Congenital Abnormality | 1q partial monosomy | Malformations of organs or body parts during development in utero. | Deletion of the long arm of chromosome 1 characterized by multiple anomalies and neurological signs, including psychomotor and developmental delay, hypotonia, seizures, characteristic facies, congenital heart diseases, osseous defects, and genital anomalies. |
C0000768 | has_associated_morphology | C0265394 | Congenital Abnormality | 1q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265395 | Congenital Abnormality | Ring chromosome 1 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atria... |
C0000768 | has_associated_morphology | C0265396 | Congenital Abnormality | Anomaly of chromosome pair 2 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265397 | Congenital Abnormality | 2p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265398 | Congenital Abnormality | 2q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265399 | Congenital Abnormality | Anomaly of chromosome pair 3 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265400 | Congenital Abnormality | 3p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265401 | Congenital Abnormality | Partial Trisomy 3q Syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265402 | Congenital Abnormality | Anomaly of chromosome pair 4 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265404 | Congenital Abnormality | 4q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | Deletion of the long arm of chromosome 4 with a variable phenotype consisting mainly of delayed psychomotor development, craniofacial anomalies, cardiovascular defects, skeletal abnormalities, occasional cleft palate, micrognathia, and glossoptosis (Pierre Robin sequence) and other disorders. Rieger anomaly (malformati... |
C0000768 | has_associated_morphology | C0265405 | Congenital Abnormality | Trisomy 4p syndrome | Malformations of organs or body parts during development in utero. | Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypert... |
C0000768 | has_associated_morphology | C0265406 | Congenital Abnormality | 4q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265407 | Congenital Abnormality | Ring chromosome 4 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenita... |
C0000768 | has_associated_morphology | C0265408 | Congenital Abnormality | Anomaly of chromosome pair 5 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265410 | Congenital Abnormality | Anomaly of chromosome pair 6 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265411 | Congenital Abnormality | 6p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265412 | Congenital Abnormality | 6q+ Syndrome, Partial | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265413 | Congenital Abnormality | Anomaly of chromosome pair 7 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265414 | Congenital Abnormality | 7p partial monosomy | Malformations of organs or body parts during development in utero. | Deletion of the short arm of chromosome 7 with a phenotype consisting mainly of craniofacial abnormalities (flattened occiput, prominent forehead, craniosynostosis, microcephaly, malformed ears, eye and palpebral anomalies), congenital heart disease, genital malformations, hand abnormalities, and mild to severe mental ... |
C0000768 | has_associated_morphology | C0265415 | Congenital Abnormality | 7q partial monosomy | Malformations of organs or body parts during development in utero. | Deletion of the long arm of chromosome 7 with delayed mental and physical development and multiple anomalies involving the craniofacial structures, eyes, extremities (mainly split hand/split foot abnormality), and other parts. |
C0000768 | has_associated_morphology | C0265418 | Congenital Abnormality | Anomaly of chromosome pair 8 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265419 | Congenital Abnormality | 8p partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265420 | Congenital Abnormality | 8q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265421 | Congenital Abnormality | Complete trisomy 8 syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265422 | Congenital Abnormality | 8p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265423 | Congenital Abnormality | 8q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265424 | Congenital Abnormality | Anomaly of chromosome pair 9 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265425 | Congenital Abnormality | 9p partial monosomy syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnorma... |
C0000768 | has_associated_morphology | C0265426 | Congenital Abnormality | 9q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265427 | Congenital Abnormality | Complete trisomy 9 syndrome | Malformations of organs or body parts during development in utero. | null |
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