| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Double aortic arch with right arch dominant and left arch patent (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Double aortic arch with right arch dominant and coarctation of left arch (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 13 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 13 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Oro-facial digital syndrome type 13 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 13 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 13 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 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. |
Occurrence |
True |
Congenital |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 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. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brown oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Yellow mutant oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cheilognathoschisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Minimal pigment oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Tyrosinase-negative oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| X chromosome-linked pyridoxine responsive sideroblastic anemia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Occult spinal dysraphism sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Tyrosinase-positive oculocutaneous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Autosomal dominant oculocutaneous albinism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| X chromosome-linked pyridoxine refractory sideroblastic anemia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Rufous albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hermansky-Pudlak syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Cross syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Temperature-sensitive oculocutaneous albinism (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital trigeminal anesthesia is a rare neuro-ophthalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Cross syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
| Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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