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Entry	Name	Description	Category	Gene
H00176	Adrenoleukodystrophy	... subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral ...	Inherited metabolic disorder, Peroxisomal disease	ABCD1 [HSA:215] [KO:K05675]
H00575	Renal tubular dysgenesis	... incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen ...	Congenital malformation	REN [HSA:5972] [KO:K01380] AGT [HSA:183] [KO:K09821] ACE [HSA:1636] [KO:K01283] AGTR1 [HSA:185] [KO:K04166]
H00613	Infantile cortical hyperostosis Caffey disease	... and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios.	Musculoskeletal disease	COL1A1 [HSA:1277] [KO:K06236]
H00987	Fetal akinesia deformation sequence Pena-Shokeir syndrome, type 1	... movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.	Congenital malformation	(FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318]
H01112	Polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE syndrome	Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 ...	Congenital malformation	STRADA [HSA:92335] [KO:K08271]
H01277	Vitamin B12 deficiency anaemia	... and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal tubular ...	Hematologic disease	(IGS1) CUBN [HSA:8029] [KO:K14616] (IGS2) AMN [HSA:81693] [KO:K18259] (IFD) CBLIF [HSA:2694] [KO:K14615]
H01412	Perlman syndrome	Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis ...	Congenital malformation	DIS3L2 [HSA:129563] [KO:K18758]
H01801	Kagami-Ogata syndrome Paternal uniparental disomy 14	... bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed ...	Chromosomal abnormality
H01937	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly Hydranencephaly with renal aplasia-dysplasia	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55 ...	Congenital malformation	CEP55 [HSA:55165] [KO:K16456]
H02120	Anencephaly	... of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes ...	Congenital malformation	(ANPH1) TRIM36 [HSA:55521] [KO:K12013] (ANPH2) NUAK2 [HSA:81788] [KO:K08800]
H02951	Ventriculomegaly with cystic kidney disease	... (VMCKD) is a novel syndrome characterized by greatly elevated maternal serum alpha-fetoprotein and/or amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish ...	Congenital malformation	CRB2 [HSA:286204] [KO:K16681]

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