| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Cerebroretinal vasculopathy |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| syndrome d'Ehlers-Danlos type vasculaire-like |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (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 |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| rétinopathie vasculaire héréditaire |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia, characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). |
Is a |
True |
Autosomal dominant hereditary disorder (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 |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| syndrome de dyschondrostéose - néphropathie |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Parastremmatic dwarfism (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Glomerulopathy with fibronectin deposits 2 (disorder) |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| fibrofolliculomes multiples familiaux |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. |
Is a |
True |
Autosomal dominant hereditary disorder (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 |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
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