| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
6 |
| Acute telogen effluvium (disorder) |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
7 |
| Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
|
| Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
7 |
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder) |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
|
| Scarring alopecia due to traumatic injury |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Telogen hair loss caused by drug |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Anagen effluvium caused by drug (disorder) |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Poliosis - acquired (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Acquired poliosis circumscripta |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Circumscribed acquired hypertrichosis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Acute telogen effluvium (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| Trichomycosis pubis (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| PARC syndrome is a rare genetic developmental defect during embryogenesis 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Menkes kinky-hair syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Total congenital alopecia |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia with hair-nail defect |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| syndrome d'hypertrichose-faciès acromégaloïde |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Tricho-oculodermovertebral syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Sparse hair with short stature and skin anomaly syndrome |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Fungal infection of hair |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| Anagen effluvium |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypotrichosis with keratosis pilaris |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypotrichosis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Distichiasis |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Congenital distichiasis |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Circumscribed acquired hypertrichosis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Idiopathic hirsutism |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis partialis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of upper eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Extreme insulin resistance with acanthosis nigricans, hirsutism AND autoantibodies to the insulin receptors |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis universalis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Barber-Say syndrome (disorder) |
Finding site |
False |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
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