Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Disseminated superficial porokeratosis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Porokeratose (Mantoux' syndrom) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Kongenit total alopeci |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital deficiency of pigment of skin |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Aplasia cutis congenita |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Distichiasis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Arteriovenous malformation of skin |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital hamartoma of skin (disorder) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital fecal fistula |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Kasabach-Merritt syndrome |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Cutis gyrata syndrome of Beare and Stevenson |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Simple syndactyly of fingers - second to fourth web |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Osseous syndactyly of fingers - first web |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Simple syndactyly of fingers - first web |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Webbed penis |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital commissural pits |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Neck webbing |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital parameatal cyst |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital phimosis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Hooded penis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Preauricular dimple |
Is a |
True |
Congenital anomaly of skin |
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 |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital club finger (disorder) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. |
Is a |
False |
Congenital anomaly of skin |
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 |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Hereditary acantholytic dermatosis |
Is a |
True |
Congenital anomaly of skin |
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 |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital alopecia with keratin cysts |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Disseminated superficial actinic porokeratosis |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Osler hemorrhagic telangiectasia syndrome |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Hereditary benign intraepithelial dyskeratosis (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Mibellis porokeratose, unilateral lineær type |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Mibellis porokeratose, dissemineret superficiel type |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Mibellis porokeratose, plaquetype |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated. |
Is a |
True |
Congenital anomaly of skin |
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 |
Congenital anomaly of skin |
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 |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Median raphe cyst (disorder) |
Is a |
True |
Congenital anomaly of skin |
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 |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
lokaliseret hudatrofi på abdominalvæggen |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Multiple pterygium syndrome |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital diffuse lipomatosis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Encephalocraniocutaneous lipomatosis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Leprechaunism syndrome |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Francois syndrome (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Cutis laxa, x-linked |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Erythrokeratodermia variabilis |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital hypertrophy of lateral fold of hallux |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital malalignment of great toenail (disorder) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Wrinkly skin syndrome (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Pulmonary tuberous sclerosis (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Ash leaf spot, tuberous sclerosis |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital extramedullary dermal hematopoiesis |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital malalignment of multiple toenails (disorder) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital cutaneous lymphangiectasia |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital infiltrating lipomatosis of face (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital malformation of lymphatic vessel of skin (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) |
Is a |
False |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Congenital pigmented melanocytic nevus of skin (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Agenesis of interphalangeal skin crease (disorder) |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Aplasia of palmar crease |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Aplasia of sweat gland |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|
Aplasia of skin of trunk |
Is a |
True |
Congenital anomaly of skin |
Inferred relationship |
Some |
|