| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Lack of ossification of basisphenoid bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Acommissural unicuspid aortic valve (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Lack of ossification of lacrimal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Congenital abnormality of cardiac ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Commissural fusion of aortic valve |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Accessory tissue on pulmonary valve cusp |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Lack of ossification of premaxilla |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Quadricuspid aortic valve (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Unicommissural unicuspid aortic valve (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Lack of ossification of presphenoid bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Rhinocephaly |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| 13q12.3 microdeletion syndrome (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability syndrome with characteristics of mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Hutchinson's triad |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Tapered teeth (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Developmental anomaly of root of tooth (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Udviklingsabnormitet af tandstørrelse og -form |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Intramedullary glomus arteriovenous malformation of spinal cord (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Otomandibular dysostosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Developmental abnormality of cusp of tooth (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Developmental anomaly of crown and root formation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Temporo-auro-mandibular dysostosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Developmental anomaly of tooth |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital malformation of bilateral external ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital malformation of bilateral external ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia disorder with characteristics of 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. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Pitt Hopkins-like syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital malformation of bilateral ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital malformation of bilateral ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Single left ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Osteogenesis imperfecta with blue sclerae AND normal teeth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Single right ventricle (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Myelocele with hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of bilateral feet (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
| Congenital overriding toes of right foot (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Congenital overriding toes of left foot (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic disease with characteristics of pre and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additional features include childhood-onset central obesity, premature puberty and variable bone abnormalities (for example small hands and feet, slender long bones and craniofacial disproportion). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital deformity of bilateral upper limbs (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital deformity of bilateral upper limbs (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Long umbilical cord |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Marginal insertion of umbilical cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Maxillary asymmetry due to hemifacial hypertrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Asymmetry of jaw |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Maxillary asymmetry due to hemifacial atrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Asymmetry of mandible |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Asymmetry of inferior border of mandible |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Velamentous insertion of umbilical cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Asymmetry of maxilla |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Four vessels in umbilical cord (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital malformation of left ear with impairment of hearing |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Photoonycholysis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Nodular elastosis with cysts and comedones (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Sunburn of third degree |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
FHIR