| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic subcutaneous tissue disorder with the presence of benign usually multiple subcutaneous tumors. The tumors are composed of adipose tissue and blood vessels typically manifesting as yellow firm circumscribed 1-4 cm in diameter tumors located in the arms, legs and trunk with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures) in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic epidermal disorder with characteristics of a chronic diffuse fine scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows) around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. There is evidence the disease is caused by mutation in the ZNF750 gene. |
Is a |
True |
Hereditary disorder of the integument |
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 |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Inherited disorder of keratinization |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Inherited cutis laxa |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Pachyonychia congenita syndrome |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Multiple pterygium syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Inherited deformity of nail (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial porphyria cutanea tarda |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Focal dermal hypoplasia |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary benign telangiectasia |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Odontotrichomelic syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary striate leuconychia |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Francois syndrome (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Marie Unna syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary palmoplantar keratoderma |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Neonatal purpura fulminans due to homozygous protein C deficiency (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Autosomal recessive familial woolly hair |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Neurofibromatosis type 2 |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Neurofibromatosis type 1 |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Distichiasis-lymphedema syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Multiple fibrofolliculomas |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Heredofamilial systemic amyloidosis affecting skin (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Poikilodermal cutaneous amyloid |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial amyloid nephropathy with urticaria AND deafness |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary clubbing |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial lichen amyloidosis |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary lymphedema and yellow nails (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hyperphosphataemic familial tumoural calcinosis |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Adams-Oliver syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hypodontia and nail dysgenesis |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial cutaneous collagenoma |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial spinal neurofibromatosis |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| X-linked congenital generalized hypertrichosis |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Curry-Hall syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Generalized congenital lipodystrophy with myopathy (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Tumoral calcinosis |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. |
Is a |
True |
Hereditary disorder of the integument |
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 |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Mohr syndrome |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Orofacial-digital syndrome III |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Orofacial-digital syndrome IV |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Phylloid hypomelanosis (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hereditary hypermelanosis (disorder) |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
Is a |
True |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. |
Is a |
False |
Hereditary disorder of the integument |
Inferred relationship |
Some |
|
FHIR