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Entry	Name	Description	Category	Gene
H02744	Neurofacioskeletal syndrome with or without renal agenesis	... stature, and other skeletal abnormalities. The majority of patients have renal agenesis. It has been reported that mutations in HS2ST1 cause this syndrome. HS2ST1 is one of several specialized enzymes required ...	Congenital malformation	HS2ST1 [HSA:9653] [KO:K02513]
H02746	Alfadhel syndrome	... syndrome characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor ...	Congenital malformation	RAP1GDS1 [HSA:5910] [KO:K27817]
H02748	Hepatorenocardiac degenerative fibrosis	... Patients present progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary ...	Congenital malformation	TULP3 [HSA:7289] [KO:K19600]
H02749	Bleeding disorder vascular-type	... Patients present a severe atypical bleeding diathesis despite unaltered platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing ...	Hematologic disease	APOLD1 [HSA:81575]
H02751	Orthostatic hypotension	... common clinical problem, but the underlying mechanisms have not been fully delineated. It has been reported that mutations in genes encoding proteins of the catecholamine metabolism are associated with ...	Cardiovascular disease	(ORTHYP1) DBH [HSA:1621] [KO:K00503] (ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
H02752	Tan-Almurshedi syndrome	... global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. It has been reported that mutations in DRG1 cause this syndrome. DRG1 is a human GTPase that associates with polysomes ...	Congenital malformation	DRG1 [HSA:4733] [KO:K06944]
H02756	Congenital juvenile recurrent respiratory papillomatosis	... papillomaviruses. The infection is thought to occur by vertical transmission at birth. It has been reported that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 gain-of-function ...	Neoplasm	NLRP1 [HSA:22861] [KO:K12798]
H02757	Recurrent respiratory infections and failure to thrive with or without diarrhea	... and failure to thrive. The phenotype clinically resembles cystic fibrosis [DS:H00218]. It has been reported that mutations in AGR2 cause this disease. AGR2 encodes a soluble protein-disulfide isomerase ...	Respiratory system disease	AGR2 [HSA:10551] [KO:K20356]
H02758	ACCES syndrome	... phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 plays a key role in the post-translational modification ...	Congenital malformation	UBA2 [HSA:10054] [KO:K10685]
H02759	Suleiman-El-Hattab syndrome	... features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. It has been reported that homozygous loss-of-function mutations in TASP1 cause this syndrome. TASP1 encodes an activator ...	Congenital malformation	TASP1 [HSA:55617] [KO:K08657]
H02760	BDV syndrome	... intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause this syndrome. CPE encodes carboxypeptidase E, an enzyme that converts ...	Inherited metabolic disorder	CPE [HSA:1363] [KO:K01294]
H02761	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	... hemolytic uremic syndrome, hyperhomocysteinemia, microangiopathy, infections and autoimmune diseases have been reported. MTHFD1 is a trifunctional enzyme that functions in the cytoplasmic folate cycle.	Inherited metabolic disorder	(CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
H02762	Osteo-oto-hepato-enteric syndrome	... is a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility. It has been reported that mutations in UNC45A cause this syndrome. UNC45A belongs to the conserved UCS protein family ...	Congenital malformation	UNC45A [HSA:55898] [KO:K21991]
H02763	Neurocardiofaciodigital syndrome	... congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly. It has been reported that mutations in MAPKAPK5 cause this syndrome. MAPKAPK5 is an essential enzyme for diverse cellular ...	Congenital malformation	MAPKAPK5 [HSA:8550] [KO:K04442]
H02765	Prieto syndrome	... X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride and cell volume-sensitive kinase ...	Congenital malformation	WNK3 [HSA:65267] [KO:K08867]
H02766	Radiohumeral fusions with other skeletal and craniofacial anomalies	... syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations in CYP26B1 cause this syndrome. CYP26B1 encodes the retinoic acid-degrading enzyme ...	Congenital malformation	CYP26B1 [HSA:56603] [KO:K12664]
H02767	Congenital disorder of deglycosylation	... associated with neurological dysfunction, abnormal tear production, and liver disease. Recently, it has been reported that impaired catabolism of fOSs due to MAN2C1 variants causes a neurodevelopmental disorder	Inherited metabolic disorder	(CDDG1) NGLY1 [HSA:55768] [KO:K01456] (CDDG2) MAN2C1 [HSA:4123] [KO:K01191]
H02768	Garg-Mishra progeroid syndrome	... characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. It has been reported that mutations in TOMM7 cause this syndrome. TOMM7 encodes a translocase in the outer mitochondrial ...	Congenital malformation	TOMM7 [HSA:54543] [KO:K17771]
H02769	Tolchin-Le Caignec syndrome	... neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas. It has been reported that mutations in SOX6 cause this syndrome. SOX6 belongs to a family of SRY-related HMG-box-containing ...	Congenital malformation	SOX6 [HSA:55553] [KO:K09269]
H02770	Early-onset seizures with neurodegeneration and brain calcifications	... epilepsy, developmental regression, and reduced white matter volume with delayed myelination. It has been reported that mutations in NRROS cause this syndrome. NRROS is a leucine-rich repeat-containing transmembrane ...	Nervous system disease	NRROS [HSA:375387] [KO:K26317]
H02771	Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy	... and reversible leukoencephalopathy (MEOAL) is an adolescent onset mitochondrial myopathy. It has been reported that mutations in FDX2 cause this disease. FDX2 encodes a ubiquitously expressed mitochondrial ...	Nervous system disease	FDX2 [HSA:112812] [KO:K22071]
H02772	Neurooculocardiogenitourinary syndrome	... disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases. It has been reported that mutations in WDR37 cause this syndrome. WDR37 encodes a member of the WD40 repeat protein ...	Congenital malformation	WDR37 [HSA:22884] [KO:K24744]
H02773	Menstrual cycle-dependent periodic fever	... fever is a rare disease characterized by recurrent high fever with each menstrual cycle. It has been reported mutations in HTR1A cause this disease. HTR1A encodes the serotonin receptor 1A that plays a critical ...	Endocrine and metabolic disease	HTR1A [HSA:3350] [KO:K04153]
H02774	Hypotaurinemic retinal degeneration and cardiomyopathy	... retina, important in photoreceptor survival and protection from oxidative stress and light damage. It has been reported that mutations in SLC6A6 cause this disease. SLC6A6 encodes the taurine transporter.	Inherited metabolic disorder	SLC6A6 [HSA:6533] [KO:K05039]
H02775	Visual impairment and progressive phthisis bulbi	... recessive disorder characterized by congenital vision loss and progressive eye degeneration. It has been reported that mutations in MARK3 cause this disease. MARK3, a member of the MARK family, regulates several ...	Nervous system disease	MARK3 [HSA:4140] [KO:K08798]
H02776	Ventriculomegaly and arthrogryposis	... lethal fetal syndrome characterized by dilated cerebral ventricles and contracted limbs. It has been reported that mutations in KIDINS220 cause this syndrome. KIDINS220 is a transmembrane protein playing ...	Congenital malformation	KIDINS220 [HSA:57498] [KO:K12460]
H02778	Global developmental delay with or without impaired intellectual development	... chronic neurological disturbance that includes defects in one or more developmental domains. It has been reported that mutations in CUX1 cause global developmental delay with or without impaired intellectual ...	Nervous system disease	CUX1 [HSA:1523] [KO:K09313]
H02779	Riboflavin-responsive exercise intolerance	... the precursor of flavin adenine dinucleotide (FAD), improves patients' clinical symptoms. It has been reported that mutations in SLC25A32 cause this disease. SLC25A32 encodes the mitochondrial FAD transporter	Inherited metabolic disorder	SLC25A32 [HSA:81034] [KO:K15115]
H02780	Liberfarb syndrome	... microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. It has been reported that mutations in PISD cause this syndrome. The phosphatidylserine decarboxylase (PISD) is located ...	Congenital malformation	PISD [HSA:23761] [KO:K01613]
H02781	Ichthyosis with erythrokeratoderma	Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant cornification disorder. It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation ...	Congenital malformation	KLK11 [HSA:11012] [KO:K09620]
H02782	Fliedner-Zweier syndrome	... disability, seizures, behavioral abnormalities, facial dysmorphisms, and skeletal anomalies. It has been reported that mutations in SCAF4 cause this syndrome. SCAF4 interacts with the C-terminal domain of the ...	Congenital malformation	SCAF4 [HSA:57466] [KO:K13167]
H02783	Myopathy with rimmed ubiquitin-positive autophagic vacuolation	... distal muscles and pathologically by rimmed ubiquitin-positive autophagic vacuolation. It has been reported that mutations in PLIN4 cause this disease. PLIN4 encodes perilipin 4, a protein member of the ...	Musculoskeletal disease	PLIN4 [HSA:729359] [KO:K20254]
H02784	Global developmental delay with speech and behavioral abnormalities	... delay/intellectual disability and a spectrum of neurobehavioral phenotypes including autism and ADHD. It has been reported that mutations in TNRC6B cause this disease. TNRC6B encodes a protein important for RNA silencing	Mental and behavioural disorder	TNRC6B [HSA:23112] [KO:K18412]
H02785	Band heterotopia	... in severity of intellectual disability and may be associated with epileptic disorders. It has been reported that mutations in EML1 cause this disease. The EML1 protein is a member of the microtubule-associated ...	Congenital malformation	EML1 [HSA:2009] [KO:K18595]
H02786	ENDOVE syndrome	... identified in patients. EN1 is a gene critical for dorsal-ventral patterning in the limb. It has also been reported that loss-of-function mutations in EN1 result in a recessively inherited combined limb-brain ...	Congenital malformation	EN1 [HSA:2019] [KO:K09319]
H02787	Mahvash disease	... characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha cell hyperplasia. It has been reported that biallelic inactivating mutations in GCGR gene cause this disease. GCGR encodes the glucagon ...	Endocrine and metabolic disease	GCGR [HSA:2642] [KO:K04583]
H02788	Childhood-onset remitting leukodystrophy	... several months despite signs of clinical improvement and was followed by remyelination. It has been reported that a mutation in FBP2 associates with this disease. FBP2 encodes the muscle fructose 1,6-bisphosphatase ...	Nervous system disease	FBP2 [HSA:8789] [KO:K03841]
H02790	Hypokalemic tubulopathy and deafness	... hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. It has been reported that mutations in KCNJ16 cause this disease. KCNJ16, along with KCNJ15 and KCNJ10, constitutes ...	Inherited metabolic disorder	KCNJ16 [HSA:3773] [KO:K05009]
H02791	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	... rhabdomyolysis (MMCKR) is a rare autosomal recessive myopathy with elevated creatine kinase level. It has been reported that mutations in MLIP cause this disease. MLIP encodes the muscular lamin A/C-interacting protein	Musculoskeletal disease	MLIP [HSA:90523] [KO:K27832]
H02792	Immune dysregulation, autoimmunity, and autoinflammation	... dysregulation, autoimmunity, and autoinflammation (IDAA) is a new immune dysregulation disease. It has been reported that a gain-of-function mutation in PLCG1 causes this disease. PLCG1 encodes phospholipase C ...	Immune system disease	PLCG1 [HSA:5335] [KO:K01116]

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