| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Xeroderma, talipes and enamel defect syndrome (disorder) |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Congenital chronic diarrhoea with protein-losing enteropathy is a rare, genetic, intestinal disease characterised by early-onset, chronic, non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary splenic hypoplasia |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Harlequin ichthyosis |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Familial porphyria cutanea tarda |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary disturbances in tooth structure |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Schinzel-Giedion syndrome |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Inherited renal tubule insufficiency with cholestatic jaundice |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Total intestinal aganglionosis |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hypohidrotic X-linked ectodermal dysplasia |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Odontotrichomelic syndrome (disorder) |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Megacystis, microcolon, hypoperistalsis syndrome |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Cystic fibrosis with meconium ileus |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Cystic fibrosis of pancreas |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Cholestasis-edema syndrome, Norwegian type |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Dentinogenesis imperfecta - Shield's type II |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Benign intrahepatic cholestasis type 1 |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| polykystose hépatique autosomique dominante |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Juvenile polyposis syndrome |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Congenital secretory diarrhea, chloride type |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary disorder of tooth |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Synthetic defect of bile acids |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Mohr syndrome |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Orofacial-digital syndrome III |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Orofacial-digital syndrome IV |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary hemorrhagic telangiectasia of gingiva |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| Hereditärer neuroendokriner Tumor des Dünndarms |
Is a |
False |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. |
Is a |
True |
Digestive system hereditary disorder |
Inferred relationship |
Some |
|
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