| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by sensory neuropathy and cerebellar ataxia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by early onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| dysplasie micronodulaire pigmentée des surrénales |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An autosomal dominant cerebellar ataxia type III that is characterized by the early onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but who have not met the criteria for hereditary nonpolyposis colon cancer. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Multiple epiphyseal dysplasia Beighton type (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant muscular dystrophy with limb girdle distribution |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Is a |
True |
Autosomal dominant hereditary disorder (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 |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Triphalangeal thumb and polysyndactyly syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hereditary hemochromatosis (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Alport syndrome autosomal dominant (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoparathyroidism type 1C (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Acromegaloid facial appearance syndrome (disorder) |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. |
Is a |
True |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
| Cerebroretinal vasculopathy |
Is a |
False |
Autosomal dominant hereditary disorder (disorder) |
Inferred relationship |
Some |
|
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