Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Haemoglobin Paksé disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Haemoglobin Paksé disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemoglobin Seal Rock disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemoglobin Seal Rock disease (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalus cleft palate syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalic primordial dwarfism Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalus microcornea syndrome of Seemanova type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Non autoimmune hemolytic anemia caused by drug (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Non autoimmune hemolytic anemia caused by drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia following gastrectomy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anemia following gastrectomy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephaly with deafness and intellectual disability syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephalus, lymphoedema, chorioretinopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephaly with simplified gyral pattern (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly-capillary malformation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Felty's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neu-Laxova syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oro-facial digital syndrome type 14 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe neonatal onset encephalopathy with microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe X-linked intellectual disability Gustavson type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Child HC < 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC = 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC 0.5th - 1.9th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC = 2nd centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalic primordial dwarfism Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft palate, large ears, small head syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Fecal lipase below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Faeces pH more acidic than reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Anemia due to enzymopathy (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anemia due to enzymopathy (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Homozygous hereditary elliptocytosis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Homozygous hereditary elliptocytosis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary iron deficiency anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |