| Entry |
Name |
Description |
Category |
Pathway |
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H03008
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Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE
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Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (EPKHE) is a rare genetic syndrome characterized by severe dermatitis, multiple allergies, and metabolic wasting. Pathogenic ...
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Congenital malformation
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H03009
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Yellow nail syndrome
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Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of nail abnormalities, chronic respiratory disease, and primary lymphoedema. Because most patients lack a positive family history ...
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Skin disease
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H03010
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Neurodevelopmental disorder with absent language and variable seizures
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Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) is caused by de novo variants in WAS protein family member 1 (WASF1), which encodes WAVE1. WAVE1 is a component of the WAVE ...
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Congenital malformation
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H03011
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Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
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Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a neurodevelopmental disorder characterized by severe cognitive impairment, hypotonia, a distinctive facial gestalt ...
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Congenital malformation
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H03012
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Autoinflammation and autoimmunity, systemic, with immune dysregulation
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Autoinflammation and autoimmunity, systemic, with immune dysregulation (AIAISD) is a rare syndrome of autoimmune disease characterized by high-titer autoantibodies, inflammatory arthritis and interstitial ...
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Immune system disease
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H03013
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Immune dysregulation, neurodevelopmental defects, and colitis
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Immune dysregulation, neurodevelopmental defects, and colitis (IDNDC) is a novel syndrome characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental ...
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Immune system disease
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H03014
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Phosphoribosylaminoimidazole carboxylase deficiency
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Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is a novel autosomal recessive inborn error resulting in multiple malformations and early neonatal death. It has been reported that a homozygous ...
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Inherited metabolic disorder
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H03015
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Brain abnormalities, neurodegeneration, and dysosteosclerosis
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is a novel disease characterized by leukoencephalopathy, brain malformations and skeletal dysplasia compatible with dysosteosclerosis ...
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Congenital malformation
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H03016
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Valence-Farazi cerebellar ataxia syndrome
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Valence-Farazi cerebellar ataxia syndrome (VAFCAS) is a novel syndrome characterized by neurodevelopmental delay and ataxia. Mutations in SKOR2 gene linked to this syndrome have been identified. SKOR2 ...
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Congenital malformation
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H03017
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Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
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Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is a syndromic intellectual disability caused by mutations in HNRNPH1. Features include a distinctive dysmorphic ...
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Congenital malformation
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H03018
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Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
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Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a syndromic intellectual disability characterized by developmental delay, microcephaly, seizures, facial ...
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Congenital malformation
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H03019
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Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
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Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an inherited neurodevelopmental disorder associated with a SNIP1 mutation, present at high frequency in ...
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Congenital malformation
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H03020
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NESCAV syndrome
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NESCAV syndrome (NESCAVS) is a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual ...
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Nervous system disease
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H03021
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Craniofaciocardiohepatic syndrome
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Craniofaciocardiohepatic syndrome (CFCHS) is a novel syndrome characterized by craniofacial anomalies, congenital heart defects, and chronic liver dysfunction. It has been reported that mutations in AMOTL1 ...
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Congenital malformation
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H03022
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Obesity, hyperphagia, and developmental delay
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Obesity, hyperphagia, and developmental delay (OBHD) is a complex developmental syndrome characterized by moderate to severe intellectual disability, seizures, hyperphagia and early-onset obesity. It has ...
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Nervous system disease
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H03023
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Multiple self-healing palmoplantar carcinoma
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Multiple self-healing palmoplantar carcinoma (MSPC) is a rare, autosomal dominant genetic condition which primarily affects epithelium lacking hair follicles, such as the palms and soles, leading to multiple ...
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Cancer
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H03024
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Saul-Wilson syndrome
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Saul-Wilson syndrome (SWILS) is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal ...
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Congenital malformation
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H03025
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Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
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Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia (AICZC) is a recently described, rare autoinflammatory disorder caused by specific mutations in the PSTPIP1 gene. Patients ...
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Immune system disease
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H03026
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Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
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Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech (NEDHES) is a severe autosomal recessive disorder caused by biallelic loss-of-function mutations in UNC13A, which result in impaired ...
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Congenital malformation
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H03027
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Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
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Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (NEDSMS) is caused by UNC13A mutations that lead to increased short-term synaptic depression during, and reduced augmentation ...
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Congenital malformation
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H03028
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Intellectual development disorder with seizures and dysmorphic facies
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Intellectual development disorder with seizures and dysmorphic facies (IDDSF) is an autosomal dominant disorder characterized by learning difficulties to mild-moderate intellectual disability as well as ...
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Congenital malformation
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H03029
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Ectodermal dysplasia/short stature syndrome
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Ectodermal dysplasia/short stature syndrome (ECTDS) is a rare autosomal recessive ectodermal dysplasia syndrome. The clinical features comprise short stature, nail dystrophy or nail loss, marginal palmoplantar ...
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Congenital malformation
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H03030
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Early-onset macular degeneration
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Early-onset macular degeneration (EOMD) is an early-onset monogenic disease. Macular degeneration is a major cause of untreatable visual impairment and affects the central region of the retina and the ...
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Nervous system disease
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H03031
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Marden-Walker syndrome
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Marden-Walker syndrome (MWKS) is a very rare disorder characterized by joint contractures, cleft palate, blepharophimosis, immobile facies, diminished muscular bulk, developmental delay, and hindbrain ...
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Congenital malformation
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H03032
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Ramond-Elliott neurodevelopmental syndrome
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Ramond-Elliott neurodevelopmental syndrome (RAMELN) is a novel neurodevelopmental syndrome. Affected individuals presented intellectual disability and/or developmental delay, frequently associated with ...
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Congenital malformation
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H03033
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Progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia
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Progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia (MGCH) is a novel disorder characterized by profound pre- and post-natal microcephaly, with pontocerebellar hypoplasia, ...
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Congenital malformation
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H03034
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Hypopigmentation, organomegaly, and delayed myelination and development
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Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is a novel pleiotropic syndrome including cutaneous albinism, developmental delay, organomegaly and enteropathy, lysosomal ...
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Congenital malformation
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H03035
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Halperin-Birk syndrome
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Halperin-Birk syndrome (HLBKS) is a lethal autosomal recessive neurological syndrome characterized by spastic quadriplegia with multiple contractures, profound developmental delay and convulsions. Brain ...
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Congenital malformation
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H03036
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Childhood- or juvenile-onset osteoporosis with developmental delay
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Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is a novel disorder characterized by osteoporosis, fractures, and developmental delay of variable severity. It has been reported ...
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Musculoskeletal disease
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H03037
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Gastric adenocarcinoma and proximal polyposis of the stomach
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Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare familial gastric cancer syndrome characterised by fundic gland polyposis of the gastric body, an autosomal dominant inheritance ...
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Cancer
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H03038
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Pettigrew syndrome
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Pettigrew syndrome (PGS) is an X-linked intellectual disability characterized by intellectual disability, Dandy-Walker malformation, seizures, choreoathetosis, coarse facies, basal ganglia calcification ...
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Congenital malformation
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H03039
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Short stature-micrognathia syndrome
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Short stature-micrognathia syndrome (SSMG), also known as ARCN1-related syndrome, presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine ...
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Congenital malformation
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H03040
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Neurodevelopmental disorder with epilepsy and brain atrophy
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Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is a novel disorder caused by mutations in ATP6V0A1, the brain-enriched isoform of a subunit in the V0 domain of vacuolar-type ATPase ...
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Congenital malformation
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H03041
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Neurodevelopmental disorder with poor growth and skeletal anomalies
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Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, seizures, and intellectual disability ...
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Congenital malformation
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H03042
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Developmental delay, language impairment, and ocular abnormalities
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Developmental delay, language impairment, and ocular abnormalities (DEVLO) is a neurodevelopmental disorder characterized by significant speech impairment, mild motor delays, microcephaly, and variable ...
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Congenital malformation
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H03043
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Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
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Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) is caused by mutations in the RAC3 gene, encoding a small Rho GTPase involved in cytoskeletal regulation. Characteristic ...
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Congenital malformation
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H03044
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Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
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Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities (NEDBAC) is a rare, severe prenatal-onset neurodevelopmental syndrome. It has been reported that mutations ...
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Congenital malformation
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H03045
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Neurodevelopmental disorder with parkinsonism or other movement abnormalities
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Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is a novel autosomal recessive disorder caused by mutations in EPG5. The age-dependent phenotypic spectrum of this ...
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Congenital malformation
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H03046
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Intellectual developmental disorder with poor growth and with or without seizures or ataxia
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Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is a variable phenotypic syndrome characterized by intellectual disability. Mutations in ABCA2 have ...
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Congenital malformation
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H03047
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Polyendocrine-polyneuropathy syndrome
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Polyendocrine-polyneuropathy syndrome (PEPNS) is a syndrome that involves gonadotropic axis deficiency, central hypothyroidism, peripheral demyelinating sensorimotor polyneuropathy, impaired intellectual ...
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Nervous system disease
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