| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Aicardi's syndrome |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Alport syndrome X-linked (disorder) |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Fragile X syndrome |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Focal dermal hypoplasia |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Fragile X associated tremor ataxia syndrome (disorder) |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Incontinentia pigmenti syndrome |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Nance-Horan syndrome (disorder) |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Oculofaciocardiodental syndrome (disorder) |
Is a |
True |
X-linked dominant hereditary disease (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 |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked congenital generalized hypertrichosis |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| PPM-X syndrome |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Adrenoleukodystrophy |
Is a |
False |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Danon disease |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Rett syndrome |
Is a |
True |
X-linked dominant hereditary disease (disorder) |
Inferred relationship |
Some |
|
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