| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chorioallantoic placenta |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary elliptocytosis due to abnormal protein 4.1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Twin dichorionic diamniotic placenta |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Sotos' syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Johanson-Blizzard syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Fibrous dysplasia of jaw |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Placenta membranacea |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Angelman syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Velamentous insertion of umbilical cord |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Familial articular hypermobility syndrome (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Amnion nodosum |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hereditary elliptocytosis due to beta spectrin defect in self-association |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Marshall-Smith syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Coronary artery arising from main pulmonary artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Conduct disorder, solitary aggressive type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dyskeratosis congenita |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Reactive attachment disorder of infancy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia Beighton type (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
9 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Hirschsprung disease of rectosigmoid region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Extensive aganglionosis Hirschsprung disease (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| syndrome d'Okamoto |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Primary stereotypy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Secondary stereotypy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
11 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Congenital secondary hydronephrosis (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital secondary hydronephrosis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Puberty disorder due to estrogen resistance (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Stereotypic movement disorder without self-injurious behavior (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Oppositional defiant disorder without chronic irritability-anger (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Adolescent onset conduct-dissocial disorder (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Adolescent onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Adolescent onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare disorder characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Peripheral precocious puberty (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Impaction of tooth in buccal mucosa (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Impaction of tooth in buccal mucosa (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Impaction of tooth in palate (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Impaction of tooth in palate (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Childhood onset conduct-dissocial disorder |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A form 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, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| schwannomatose |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.8.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]