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308490002: Pathological developmental process (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of vomer Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lack of ossification of mandible Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypoplastic anemia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Lack of ossification of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Multiple lentigines syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of pubis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Cervical spinal hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Congenital vaginal enterocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital vaginal enterocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of supraoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Delayed epiphyseal closure Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Discontinuity between mitral valve and pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Quadricuspid pulmonary valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital abnormality of arterial valves Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Premature epiphyseal closure Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Lack of ossification of tympanic anulus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Right-left orientation of bicuspid pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bone turnover rate disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bone turnover rate decreased Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital fusion of pulmonary valve segment (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Increased bone formation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bicuspid pulmonary valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Unicuspid aortic valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Commissural fusion of pulmonary valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Bone resorption disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Sacral agenesis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Sacral agenesis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Lack of ossification of basisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Decreased maintenance of bone matrix Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Acommissural unicuspid aortic valve (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Bone turnover rate increased Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Lack of ossification of lacrimal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
épiphyse soudée Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital abnormality of cardiac ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bone turnover rate absent Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Commissural fusion of aortic valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Late closure of anterior fontanel Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Progression of fetal right ventricular outflow tract obstruction Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Incomplete ossification of ilium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Decreased osteoblast function Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Progression of fetal left ventricular outflow tract obstruction (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Accessory tissue on pulmonary valve cusp Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Incomplete ossification of interparietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lack of bone formation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Lack of ossification of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Quadricuspid aortic valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Unicommissural unicuspid aortic valve (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Osteoid formation disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Lack of ossification of presphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Epiphysis formation disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Early fontanel closure Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Functional bone disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Reduced ossification Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Incomplete ossification Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Late fontanel closure Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplastic left heart syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3

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