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 | isa | C0000772 | Congenital Abnormality | Multiple congenital anomalies | Malformations of organs or body parts during development in utero. | Congenital abnormalities that affect more than one organ or body structure. |
C0000768 | isa | C0001916 | Congenital Abnormality | Albinism | Malformations of organs or body parts during development in utero. | General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. |
C0000768 | isa | C0008626 | Congenital Abnormality | Congenital chromosomal disease | Malformations of organs or body parts during development in utero. | Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
C0000768 | isa | C0012241 | Congenital Abnormality | Congenital anomaly of gastrointestinal tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0035238 | Congenital Abnormality | Congenital abnormality of respiratory system | Malformations of organs or body parts during development in utero. | Congenital structural abnormalities of the respiratory system. |
C0000768 | isa | C0151491 | Congenital Abnormality | Congenital musculoskeletal anomalies | Malformations of organs or body parts during development in utero. | Congenital structural abnormalities and deformities of the musculoskeletal system. |
C0000768 | isa | C0158581 | Congenital Abnormality | Ear, face and neck congenital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | 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 | isa | C0266020 | Congenital Abnormality | Congenital malposition of digestive organs | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266271 | Congenital Abnormality | Congenital anomaly of endocrine gland | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266623 | Congenital Abnormality | Congenital anomaly of neck | Malformations of organs or body parts during development in utero. | An abnormality of the neck. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266629 | Congenital Abnormality | Congenital anomaly of the hematopoietic system | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266647 | Congenital Abnormality | Congenital anomalies of fetus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0268230 | Congenital Abnormality | Dysmorphic sialidosis, infantile form | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0456309 | Congenital Abnormality | Congenital abnormality of lower limb and pelvic girdle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0497552 | Congenital Abnormality | Congenital neurologic anomalies | Malformations of organs or body parts during development in utero. | Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. |
C0000768 | isa | C0520555 | Congenital Abnormality | Congenital anomaly of head | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0730205 | Congenital Abnormality | Congenital anomaly of trunk | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0741368 | Congenital Abnormality | Congenital anomaly of back | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1290502 | Congenital Abnormality | Congenital anomaly of tongue, salivary gland AND/OR pharynx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3536895 | Congenital Abnormality | Congenital anomaly of integument (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3665496 | Congenital Abnormality | Congenital anomaly of cardiovascular system (disorder) | Malformations of organs or body parts during development in utero. | A heart or vascular abnormality which is inborn or present at birth. |
C0000768 | isa | C3697746 | Congenital Abnormality | Single congenital anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | inverse_isa | C0242354 | Congenital Abnormality | Congenital Disorders | Malformations of organs or body parts during development in utero. | existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here. |
C0000768 | has_focus | C2919507 | Congenital Abnormality | Fluoroscopic percutaneous angiography of heart for complex congenital anomaly with contrast | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0000754 | Congenital Abnormality | Congenital abnormal fusion | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0008519 | Congenital Abnormality | Ectopic Tissue | Malformations of organs or body parts during development in utero. | A mass of histologically normal tissue present in an abnormal location. |
C0000768 | isa | C0020636 | Congenital Abnormality | Congenital hypoplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0038476 | Congenital Abnormality | Supernumerary structure | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0152424 | Congenital Abnormality | Common ventricle | Malformations of organs or body parts during development in utero. | Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two. |
C0000768 | isa | C0235832 | Congenital Abnormality | Congenital hernia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0243066 | Congenital Abnormality | Atresia | Malformations of organs or body parts during development in utero. | A congenital anatomic defect characterised by the absence of a normally present opening in an organ or tissue. |
C0000768 | isa | C0332865 | Congenital Abnormality | Congenital Dysplasia | Malformations of organs or body parts during development in utero. | Abnormal tissue formation due to abnormal cellular organization, which may result in a morphologic defect. |
C0000768 | isa | C0332885 | Congenital Abnormality | congenital stenosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332900 | Congenital Abnormality | Congenital abnormal shape, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332906 | Congenital Abnormality | Abnormal communication (morphologic abnormality) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332907 | Congenital Abnormality | Congenital absence | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332915 | Congenital Abnormality | Congenital failure of fusion | Malformations of organs or body parts during development in utero. | congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. |
C0000768 | isa | C0332928 | Congenital Abnormality | Congenital septation | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0333001 | Congenital Abnormality | Congenital cavitation, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0333005 | Congenital Abnormality | Congenital sequestration, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0686914 | Congenital Abnormality | Congenital misalignment, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1961121 | Congenital Abnormality | Congenital vascular anomaly | Malformations of organs or body parts during development in utero. | A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. |
C0000768 | isa | C2733175 | Congenital Abnormality | Common cardiac atrium | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0000772 | Congenital Abnormality | Multiple congenital anomalies | Malformations of organs or body parts during development in utero. | Congenital abnormalities that affect more than one organ or body structure. |
C0000768 | has_associated_morphology | C0002636 | Congenital Abnormality | Amniotic Band Syndrome | Malformations of organs or body parts during development in utero. | A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations. |
C0000768 | has_associated_morphology | C0003803 | Congenital Abnormality | Arnold Chiari Malformation | Malformations of organs or body parts during development in utero. | A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but le... |
C0000768 | has_associated_morphology | C0003857 | Congenital Abnormality | Congenital arteriovenous malformation | Malformations of organs or body parts during development in utero. | Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage... |
C0000768 | has_associated_morphology | C0003886 | Congenital Abnormality | Arthrogryposis | Malformations of organs or body parts during development in utero. | <p>Arthrogryposis</p> |
C0000768 | has_associated_morphology | C0004135 | Congenital Abnormality | Ataxia Telangiectasia | Malformations of organs or body parts during development in utero. | An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmona... |
C0000768 | has_associated_morphology | C0004903 | Congenital Abnormality | Beckwith-Wiedemann Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. |
C0000768 | has_associated_morphology | C0005689 | Congenital Abnormality | Bladder Exstrophy | Malformations of organs or body parts during development in utero. | A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top front surface of the bladder, as well as the lower abdominal wall; SKIN; MUSCLES; and the pubic bone. |
C0000768 | has_associated_morphology | C0005859 | Congenital Abnormality | Bloom Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. |
C0000768 | has_associated_morphology | C0008297 | Congenital Abnormality | Choanal Atresia | Malformations of organs or body parts during development in utero. | A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous. |
C0000768 | has_associated_morphology | C0008780 | Congenital Abnormality | Ciliary Motility Disorders | Malformations of organs or body parts during development in utero. | Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. |
C0000768 | has_associated_morphology | C0008924 | Congenital Abnormality | Cleft upper lip | Malformations of organs or body parts during development in utero. | Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. |
C0000768 | has_associated_morphology | C0008925 | Congenital Abnormality | Cleft Palate | Malformations of organs or body parts during development in utero. | Congenital fissure of the soft and/or hard palate, due to faulty fusion. |
C0000768 | has_associated_morphology | C0008928 | Congenital Abnormality | Cleidocranial Dysplasia | Malformations of organs or body parts during development in utero. | Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies. |
C0000768 | has_associated_morphology | C0009207 | Congenital Abnormality | Cockayne Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by ... |
C0000768 | has_associated_morphology | C0009726 | Congenital Abnormality | Congenital pigmentary skin anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0010417 | Congenital Abnormality | Cryptorchidism | Malformations of organs or body parts during development in utero. | A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended t... |
C0000768 | has_associated_morphology | C0011320 | Congenital Abnormality | Dens in Dente | Malformations of organs or body parts during development in utero. | Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge. |
C0000768 | has_associated_morphology | C0011430 | Congenital Abnormality | Dentin Dysplasia | Malformations of organs or body parts during development in utero. | An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0011436 | Congenital Abnormality | Dentinogenesis Imperfecta | Malformations of organs or body parts during development in utero. | An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated. |
C0000768 | has_associated_morphology | C0011998 | Congenital Abnormality | Diastema of Teeth | Malformations of organs or body parts during development in utero. | An abnormal opening or fissure between two adjacent teeth. |
C0000768 | has_associated_morphology | C0013903 | Congenital Abnormality | Ellis-Van Creveld Syndrome | Malformations of organs or body parts during development in utero. | Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0013946 | Congenital Abnormality | Embryonic cyst of fallopian tube and broad ligament | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0015923 | Congenital Abnormality | Fetal Alcohol Syndrome | Malformations of organs or body parts during development in utero. | A condition occurring in FETUS or NEWBORN due to in utero ETHANOL exposure when mother consumed alcohol during pregnancy. It is characterized by a cluster of irreversible BIRTH DEFECTS including abnormalities in physical, mental, and behavior development (such as FETAL GROWTH RETARDATION; MENTAL RETARDATION; ATTENTION ... |
C0000768 | has_associated_morphology | C0016667 | Congenital Abnormality | Fragile X Syndrome | Malformations of organs or body parts during development in utero. | A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males a... |
C0000768 | has_associated_morphology | C0016696 | Congenital Abnormality | Freemartin | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0016696 | Congenital Abnormality | Freemartin | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0016873 | Congenital Abnormality | Fused Teeth | Malformations of organs or body parts during development in utero. | Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both. |
C0000768 | has_associated_morphology | C0018522 | Congenital Abnormality | Hallermann's Syndrome | Malformations of organs or body parts during development in utero. | An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0018920 | Congenital Abnormality | Hemangioma, Cavernous | Malformations of organs or body parts during development in utero. | A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous ... |
C0000768 | has_associated_morphology | C0020186 | Congenital Abnormality | Hutchinson's Teeth | Malformations of organs or body parts during development in utero. | An incisor with a half-moon shape incisal edge. [] |
C0000768 | has_associated_morphology | C0020608 | Congenital Abnormality | Hypodontia | Malformations of organs or body parts during development in utero. | The congenital absence of one or a few teeth with the exclusion of third molars. |
C0000768 | has_associated_morphology | C0021193 | Congenital Abnormality | Indeterminate sex and pseudohermaphroditism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0022521 | Congenital Abnormality | Kartagener Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. |
C0000768 | has_associated_morphology | C0022739 | Congenital Abnormality | Klippel-Trenaunay-Weber Syndrome | Malformations of organs or body parts during development in utero. | A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. |
C0000768 | has_associated_morphology | C0023003 | Congenital Abnormality | Langer-Giedion Syndrome | Malformations of organs or body parts during development in utero. | Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). |
C0000768 | has_associated_morphology | C0023138 | Congenital Abnormality | Laurence-Moon Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;3... |
C0000768 | has_associated_morphology | C0024421 | Congenital Abnormality | Macroglossia | Malformations of organs or body parts during development in utero. | The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (Fr... |
C0000768 | has_associated_morphology | C0024433 | Congenital Abnormality | Macrostomia | Malformations of organs or body parts during development in utero. | Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0024814 | Congenital Abnormality | Marinesco-Sjogren syndrome | Malformations of organs or body parts during development in utero. | A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature. |
C0000768 | has_associated_morphology | C0025237 | Congenital Abnormality | Melnick-Needles Syndrome | Malformations of organs or body parts during development in utero. | Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. |
C0000768 | has_associated_morphology | C0025988 | Congenital Abnormality | Microglossia | Malformations of organs or body parts during development in utero. | Decreased length and width of the tongue. [PMID:19125428] |
C0000768 | has_associated_morphology | C0026034 | Congenital Abnormality | Microstomia | Malformations of organs or body parts during development in utero. | A congenital defect in which the mouth is unusually small. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0026363 | Congenital Abnormality | Mohr Syndrome | Malformations of organs or body parts during development in utero. | Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. |
C0000768 | has_associated_morphology | C0026505 | Congenital Abnormality | Monster (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0026633 | Congenital Abnormality | Mouth Abnormalities | Malformations of organs or body parts during development in utero. | Congenital absence of or defects in structures of the mouth. |
C0000768 | has_associated_morphology | C0026760 | Congenital Abnormality | Multiple Epiphyseal Dysplasia | Malformations of organs or body parts during development in utero. | A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include... |
C0000768 | has_associated_morphology | C0027443 | Congenital Abnormality | Natal Teeth | Malformations of organs or body parts during development in utero. | Predeciduous teeth present at birth. They may be well formed and normal or may represent hornified epithelial structures without roots. They are found on the gingivae over the crest of the ridge and arise from accessory buds of the dental lamina ahead of the deciduous buds or from buds of the accessory dental lamina. (... |
C0000768 | has_associated_morphology | C0028326 | Congenital Abnormality | Noonan Syndrome | Malformations of organs or body parts during development in utero. | A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype ... |
C0000768 | has_associated_morphology | C0028860 | Congenital Abnormality | Oculocerebrorenal Syndrome | Malformations of organs or body parts during development in utero. | A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOL... |
C0000768 | has_associated_morphology | C0028878 | Congenital Abnormality | Odontogenesis Imperfecta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0029294 | Congenital Abnormality | Orofaciodigital Syndromes | Malformations of organs or body parts during development in utero. | Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. |
C0000768 | has_associated_morphology | C0029422 | Congenital Abnormality | Osteochondrodysplasias | Malformations of organs or body parts during development in utero. | Abnormal development of cartilage and bone. |
C0000768 | has_associated_morphology | C0030360 | Congenital Abnormality | Papillon-Lefevre Disease | Malformations of organs or body parts during development in utero. | Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease. |
C0000768 | has_associated_morphology | C0031900 | Congenital Abnormality | Pierre Robin Syndrome | Malformations of organs or body parts during development in utero. | Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-ex... |
C0000768 | has_associated_morphology | C0032339 | Congenital Abnormality | Rothmund-Thomson syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADIS... |
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