| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Inherited deformity of nail (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Pachyonychia congenita syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Anonychia with bizarre flexural pigmentation |
Is a |
False |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Nail dystrophy due to Darier's disease (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Oto-onycho-peroneal syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Schinzel-Giedion syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hypohidrotic X-linked ectodermal dysplasia |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Odontotrichomelic syndrome (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hereditary striate leuconychia |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hidrotic ectodermal dysplasia syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic developmental defect during embryogenesis syndrome characterized by 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 |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hereditary clubbing (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hereditary lymphedema and yellow nails (disorder) |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hypodontia and nail dysgenesis |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Curry-Hall syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
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 |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Incontinentia pigmenti syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Hereditary distal onycholysis |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Congenital isolated onychodysplasia |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
| Schöpf-Schulz-Passarge syndrome |
Is a |
True |
Genetic disorder of nail (disorder) |
Inferred relationship |
Some |
|
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