| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked hereditary motor and sensory neuropathy |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Fragile X associated tremor ataxia syndrome (disorder) |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked agammaglobulinemia with growth hormone deficiency |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked muscular dystrophy with limb girdle distribution |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Otopalatodigital syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrhythmia and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Spondyloepimetaphyseal dysplasia Bieganski type |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked acrogigantism |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic 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 |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Bulbospinal neuronopathy |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. |
Is a |
False |
X-linked 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 |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic muscular dystrophy disease with characteristics of 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. Caused by mutation in the FHL1 gene. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-bundet dominant chondrodysplasia punctata |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Focal dermal hypoplasia |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked Ehlers-Danlos syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Pelizaeus-Merzbacher disease |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Fragile X syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Lowe syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Aicardi's syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Blue cone monochromatism (disorder) |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Familial x-linked hypophosphatemic vitamin D refractory rickets |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked asexual dwarfism |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked hypodontia (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked oligodontia (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked congenital generalized hypertrichosis |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability hypotonic face syndrome |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked complex hereditary spastic paraplegia |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked pure hereditary spastic paraplegia |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked Emery-Dreifuss muscular dystrophy |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked distal hereditary motor neuropathy |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked thrombocytopenia with normal platelets (disorder) |
Is a |
False |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked recessive hereditary disease |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked dominant hereditary disease (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked sensorineural hearing loss |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked excess of thyroxine-binding globulin |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked reduction of thyroxine-binding globulin |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked absence of thyroxine-binding globulin |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked retinitis pigmentosa |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked variant form of thyroxine-binding globulin (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked panhypopituitarism (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked hypoparathyroidism (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked optic atrophy |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Adrenoleukodystrophy |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
| X-linked hereditary vasopressin resistance |
Is a |
True |
X-linked hereditary disease (disorder) |
Inferred relationship |
Some |
|
FHIR