Split (1)

train · 21.6M rows

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_associated_morphology	C1300206	Congenital Abnormality	Blomstrand dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1300257	Congenital Abnormality	Thanatophoric dysplasia, type 2	Malformations of organs or body parts during development in utero.	A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, disti...
C0000768	has_associated_morphology	C1300259	Congenital Abnormality	Spondyloepiphyseal dysplasia with joint laxity	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1300265	Congenital Abnormality	Trichorhinophalangeal dysplasia type III	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1300269	Congenital Abnormality	Precocious osteodysplasty	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1300270	Congenital Abnormality	Yunis-Varon dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1302264	Congenital Abnormality	Tetralogy of Fallot with absent pulmonary valve	Malformations of organs or body parts during development in utero.	Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. [HPO_CONTRIBUTOR:DDD_dbrown]
C0000768	has_associated_morphology	C1302790	Congenital Abnormality	Congenital malformation syndrome	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
C0000768	has_associated_morphology	C1302793	Congenital Abnormality	Cutaneous vascular malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1304402	Congenital Abnormality	Congenital vascular malformation of skin	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1305963	Congenital Abnormality	Anomaly of epiglottis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1306831	Congenital Abnormality	Facial milia, lobate tongue, lingual and labial frenula syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1314883	Congenital Abnormality	Duplication of teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1318486	Congenital Abnormality	Radiation chimera (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1318523	Congenital Abnormality	Mottled teeth, congenital	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1319068	Congenital Abnormality	Reverse position of adjacent teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1321495	Congenital Abnormality	Rosenthal-Kloepfer syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1384670	Congenital Abnormality	Single umbilical artery	Malformations of organs or body parts during development in utero.	Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta.
C0000768	has_associated_morphology	C1394030	Congenital Abnormality	Coronal hypospadias	Malformations of organs or body parts during development in utero.	A mild form of hypospadias in which the urethra opens just under the corona glandis. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C1404372	Congenital Abnormality	Mottling of enamel (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1510455	Congenital Abnormality	Acrocephalosyndactylia	Malformations of organs or body parts during development in utero.	Congenital craniostenosis with syndactyly.
C0000768	has_associated_morphology	C1532489	Congenital Abnormality	Mesonephric duct cyst of broad ligament	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1536875	Congenital Abnormality	Renal arteriovenous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1562433	Congenital Abnormality	Epicapsular star	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1562503	Congenital Abnormality	Vein of Galen Malformations	Malformations of organs or body parts during development in utero.	Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE.
C0000768	has_associated_morphology	C1691215	Congenital Abnormality	Penile hypospadias	Malformations of organs or body parts during development in utero.	Location of the urethral opening on the inferior aspect of the penis. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C1737329	Congenital Abnormality	Dysmorphism	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1739111	Congenital Abnormality	Fetus affected by placental transfer of anticonvulsant	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1744559	Congenital Abnormality	Congenital ectodermal dysplasia of face	Malformations of organs or body parts during development in utero.	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a fl...
C0000768	has_associated_morphology	C1838437	Congenital Abnormality	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Malformations of organs or body parts during development in utero.	Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
C0000768	has_associated_morphology	C1844696	Congenital Abnormality	OTOPALATODIGITAL SYNDROME, TYPE II	Malformations of organs or body parts during development in utero.	A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of ...
C0000768	has_associated_morphology	C1846265	Congenital Abnormality	Microphthalmia, syndromic 2	Malformations of organs or body parts during development in utero.	Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
C0000768	has_associated_morphology	C1850106	Congenital Abnormality	RAINE SYNDROME	Malformations of organs or body parts during development in utero.	A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is tr...
C0000768	has_associated_morphology	C1850554	Congenital Abnormality	Atelosteogenesis type 2	Malformations of organs or body parts during development in utero.	A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
C0000768	has_associated_morphology	C1850746	Congenital Abnormality	Myopathy, congenital nonprogressive with Moebius and Robin sequences	Malformations of organs or body parts during development in utero.	Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
C0000768	has_associated_morphology	C1854678	Congenital Abnormality	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Malformations of organs or body parts during development in utero.	A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.
C0000768	has_associated_morphology	C1857100	Congenital Abnormality	Dyssegmental dysplasia	Malformations of organs or body parts during development in utero.	A rare genetic primary bone dysplasia and lethal form of neonatal short-limbed dwarfism, with characteristics of anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may inclu...
C0000768	has_associated_morphology	C1859452	Congenital Abnormality	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1868678	Congenital Abnormality	Thanatophoric Dysplasia, Type I	Malformations of organs or body parts during development in utero.	A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features inclu...
C0000768	has_associated_morphology	C1868705	Congenital Abnormality	Shone complex	Malformations of organs or body parts during development in utero.	Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of...
C0000768	has_associated_morphology	C1868854	Congenital Abnormality	Penoscrotal transposition	Malformations of organs or body parts during development in utero.	A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities.
C0000768	has_associated_morphology	C1876203	Congenital Abnormality	Frontonasal dysplasia	Malformations of organs or body parts during development in utero.	A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occas...
C0000768	has_associated_morphology	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	has_associated_morphology	C1997453	Congenital Abnormality	Congenital vascular malformation of orbit	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C1997928	Congenital Abnormality	Percutaneous transluminal ablation of congenital heart malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C1998159	Congenital Abnormality	Congenital vascular malformation of lip	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2004465	Congenital Abnormality	Congenital malformation of upper alimentary tract	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2004597	Congenital Abnormality	Epstein's pearl	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2047799	Congenital Abnormality	Penile shaft hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2242955	Congenital Abnormality	Gingival cyst of newborn	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2317185	Congenital Abnormality	Congenital malformation of sphenoid wing	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2349953	Congenital Abnormality	Congenital fissure of tongue	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2584703	Congenital Abnormality	Endemic congenital iodine deficiency syndrome of myxedematous type	Malformations of organs or body parts during development in utero.	Congenital iodine deficiency syndrome associated with milder mental retardation, short stature, goiter, and hypothyroidism. It results from iodine deficiency and hypothyroidism in the fetus during late pregnancy or in the neonatal period.
C0000768	has_associated_morphology	C2711633	Congenital Abnormality	Delta phalanx of finger	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2745959	Congenital Abnormality	Spondyloepiphyseal dysplasia, congenita	Malformations of organs or body parts during development in utero.	Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
C0000768	has_associated_morphology	C2919297	Congenital Abnormality	Isolation of right common carotid artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2919298	Congenital Abnormality	Isolation of left common carotid artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2919394	Congenital Abnormality	Congenital malformation of blood vessel of orbit proper	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2931464	Congenital Abnormality	Goldblatt Viljoen syndrome	Malformations of organs or body parts during development in utero.	An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an aut...
C0000768	has_associated_morphology	C2931737	Congenital Abnormality	Hersh Podruch Weisskopk syndrome	Malformations of organs or body parts during development in utero.	A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small...
C0000768	has_associated_morphology	C2931783	Congenital Abnormality	Amelogenesis imperfecta nephrocalcinosis	Malformations of organs or body parts during development in utero.	A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephroca...
C0000768	has_associated_morphology	C2936694	Congenital Abnormality	Swyer Syndrome	Malformations of organs or body parts during development in utero.	A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
C0000768	has_associated_morphology	C2936904	Congenital Abnormality	Opitz GBBB Syndrome, X-Linked	Malformations of organs or body parts during development in utero.	First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated d...
C0000768	has_associated_morphology	C2973527	Congenital Abnormality	Dentinogenesis imperfecta without osteogenesis imperfecta	Malformations of organs or body parts during development in utero.	Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.
C0000768	has_associated_morphology	C2981132	Congenital Abnormality	Shell teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C2981150	Congenital Abnormality	Uranostaphyloschisis	Malformations of organs or body parts during development in utero.	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C2985290	Congenital Abnormality	Fetal Alcohol Spectrum Disorders	Malformations of organs or body parts during development in utero.	An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETA...
C0000768	has_associated_morphology	C3164460	Congenital Abnormality	Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3164647	Congenital Abnormality	Tracheal origin of right upper lobe bronchus	Malformations of organs or body parts during development in utero.	Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. [https://orcid.org/0000-0002-4095-8489, PMID:11158647, PMID:19332762]
C0000768	has_associated_morphology	C3164654	Congenital Abnormality	Parallel course of aorta and pulmonary artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3165526	Congenital Abnormality	Congenital iodine deficiency syndrome	Malformations of organs or body parts during development in utero.	A condition attributed to iodine deficiency during gestation. It is characterized by a spectrum of mental and physical disabilities.
C0000768	has_associated_morphology	C3250443	Congenital Abnormality	MYOTONIC DYSTROPHY 1	Malformations of organs or body parts during development in utero.	A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.
C0000768	has_associated_morphology	C3266898	Congenital Abnormality	Waardenburg Syndrome	Malformations of organs or body parts during development in utero.	Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may b...
C0000768	has_associated_morphology	C3494767	Congenital Abnormality	Penile mid-shaft hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3494768	Congenital Abnormality	Covered exstrophy of bladder	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3494986	Congenital Abnormality	Narcotic embryopathy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3531850	Congenital Abnormality	Thoracopagus with separate hearts and pericardial sacs	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3531851	Congenital Abnormality	Thoracopagus with separate hearts and common pericardial sac	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3531852	Congenital Abnormality	Thoracopagus with conjoined atria	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3531853	Congenital Abnormality	Thoracopagus with conjoined atria and ventricles	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3536589	Congenital Abnormality	Persistent urogenital sinus, low confluence	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3536590	Congenital Abnormality	Persistent urogenital sinus, high confluence	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3541456	Congenital Abnormality	Spondyloepiphyseal Dysplasia Tarda, X-Linked	Malformations of organs or body parts during development in utero.	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
C0000768	has_associated_morphology	C3662228	Congenital Abnormality	Fetal or neonatal effect of maternal alcohol addiction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3662234	Congenital Abnormality	Fetus and newborn affected by maternal use of alcohol	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3669122	Congenital Abnormality	5-Alpha Reductase Deficiency	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3670678	Congenital Abnormality	Congenital concavity of sternum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C3697828	Congenital Abnormality	Male subcoronal hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C4082198	Congenital Abnormality	Agenesis of nasal cartilages	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C4225671	Congenital Abnormality	VACTERL/VATER association	Malformations of organs or body parts during development in utero.	An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities.
C0000768	has_associated_morphology	C4520892	Congenital Abnormality	Otospondylomegaepiphyseal dysplasia	Malformations of organs or body parts during development in utero.	Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
C0000768	has_associated_morphology	C4759655	Congenital Abnormality	Congenital cleft nose	Malformations of organs or body parts during development in utero.	Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinu...
C0000768	has_associated_morphology	C5399761	Congenital Abnormality	Cerebro-oculo-facio-skeletal syndrome	Malformations of organs or body parts during development in utero.	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
C0000768	has_associated_morphology	C5444799	Congenital Abnormality	Cutaneous Arteriovenous Malformation/Hemangioma	Malformations of organs or body parts during development in utero.	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the skin.
C0000768	has_associated_morphology	C5550990	Congenital Abnormality	Fetal Retinoid Syndrome	Malformations of organs or body parts during development in utero.	Multiple fetal abnormalities due to the maternal use of vitamin A congeners in the treatment of recalcitrant severe acne during pregnancy. Birth defects are similar to those in Di George syndrome and include craniofacial and central nervous system anomalies with dysmorphic facial features, learning problems, cortical b...
C0000768	has_associated_morphology	C5574652	Congenital Abnormality	First arch syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C5574658	Congenital Abnormality	Atelosteogenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C5574661	Congenital Abnormality	Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C5574870	Congenital Abnormality	Parkes Weber syndrome	Malformations of organs or body parts during development in utero.	A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter ...
C0000768	has_associated_morphology	C5690820	Congenital Abnormality	Dental Enamel Hypomineralization	Malformations of organs or body parts during development in utero.	Reduced mineralization disorder of the DENTAL ENAMEL during development resulting in qualitative defects, e.g., discolored or chalky (soft) enamel.

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