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Disease	Synonyms	Description
syndromic X-linked intellectual disability 17	mental retardation, X-linked, syndromic 17; intell.. [+] mental retardation, X-linked, syndromic 17; intellectual disability-alacrima-achalasia syndrome; X-linked mental retardation with alacrima and achalasia [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. [-]
syndromic X-linked intellectual disability 12	mental retardation, X-linked, syndromic 12; X-link.. [+] mental retardation, X-linked, syndromic 12; X-linked intellectual disability, Wilson type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. [-]
syndromic X-linked intellectual disability Hedera type	MRXE; MRXSH; mental retardation, X-linked, syndrom.. [+] MRXSH; MRXE; mental retardation, X-linked, syndromic, Hedera type; X-linked mental retardation with epilepsy [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability Najm type	MICPCH; mental retardation and microcephaly with p.. [+] MICPCH; mental retardation and microcephaly with pontine and cerebellar hypoplasia; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability 7	mental retardation, X-linked syndromic 7; MRXS7; X.. [+] MRXS7; mental retardation, X-linked syndromic 7; X-linked intellectual disability, Ahmad type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. [-]
syndromic X-linked intellectual disability Claes-Jensen type	MRXSCJ; MRXSJ; mental retardation, X-linked, syndr.. [+] MRXSJ; MRXSCJ; mental retardation, X-linked, syndromic, Claes-Jensen type; syndromic X-linked intellectual disability due to JARID1C mutation; syndromic X-linked mental retardation JARID1C-related [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability type 10	mental retardation, X-linked syndromic 10; MRXS10; .. [+] MRXS10; mental retardation, X-linked syndromic 10; HSD10 deficiency, atypical type; HSD10 disease, atypical type; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Turner type	MRXST; mental retardation, X-linked syndromic, Tur.. [+] MRXST; mental retardation, X-linked syndromic, Turner type; mental retardation and macrocephaly syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Siderius type	MRXSSD; mental retardation syndrome, X-linked, Sid.. [+] MRXSSD; mental retardation syndrome, X-linked, Siderius type; Siderius X-linked mental retardation syndrome; Siderius-Hamel syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Shrimpton type	MRXS9; mental retardation, X-linked, syndromic 9	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. [-]
Wilson-Turner syndrome	MRXS6; mental retardation, X-linked, with gynecoma.. [+] MRXS6; mental retardation, X-linked, with gynecomastia and obesity; mental retardation, X-linked, syndromic 6; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. [-]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	MRXS28; mental retardation, X-linked, syndromic 28.. [+] MRXS28; mental retardation, X-linked, syndromic 28; corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. [-]
syndromic X-linked intellectual disability 34	MRXS34; MRXSML; mental retardation, X-linked, synd.. [+] MRXSML; MRXS34; mental retardation, X-linked, syndromic 34; macrocephaly-intellectual disability-left ventricular non compaction syndrome; syndromic X-linked mental retardation Mircsof-Langouet type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. [-]
syndromic X-linked intellectual disability Abidi type	MRXSAB; mental retardation, X-linked syndromic, Ab.. [+] MRXSAB; mental retardation, X-linked syndromic, Abidi type; syndromic X-linked mental retardation Abidi type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. [-]
syndromic X-linked intellectual disability Chudley-Schwartz type	MRXSCS; mental retardation, X-linked, syndromic, C.. [+] MRXSCS; mental retardation, X-linked, syndromic, Chudley-Schwartz type; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. [-]
syndromic X-linked intellectual disability Nascimento type	mental retardation, X-linked syndromic, Nascimento.. [+] mental retardation, X-linked syndromic, Nascimento-type; X-linked intellectual disability-nail dystrophy-seizures syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. [-]
syndromic X-linked intellectual disability 14	mental retardation, X-linked, syndromic 14	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. [-]
syndromic X-linked intellectual disability Cabezas type	MRSS; MRXS15; MRXSC; mental retardation, X-linked,.. [+] MRXSC; MRXS15; MRSS; mental retardation, X-linked, syndromic 15 (Cabezas type); Cabezas syndrome; syndromic X-linked mental retardation 15; X-linked mental retardation with short stature; X-linked mental retardation with short stature, hypogonadism, and abnormal gait [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. [-]
syndromic X-linked intellectual disability 94	mental retardation, X-linked 94; MRX94; MRXS29; sy.. [+] MRXS29; MRX94; mental retardation, X-linked 94; syndromic X-linked intellectual disability due to GRIA3 anomalies; syndromic X-linked mental retardation 29; syndromic X-linked mental retardation Wu type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. [-]
syndromic X-linked intellectual disability Raymond type	MRXSR; mental retardation, X-linked syndromic, Ray.. [+] MRXSR; mental retardation, X-linked syndromic, Raymond type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. [-]
Christianson syndrome	MRXSCH; mental retardation, X-linked syndromic, Ch.. [+] MRXSCH; mental retardation, X-linked syndromic, Christianson type; mental retardation, microcephaly, epilepsy, and ataxia syndrome; X-linked Angelman-like syndrome; X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. [-]
syndromic X-linked intellectual disability Shashi type	MRXS11; mental retardation, X-linked, syndromic 11.. [+] MRXS11; mental retardation, X-linked, syndromic 11, Shashi type; Shashi X-linked mental retardation syndrome; SMRXS; syndromic X-linked intellectual disability type 11; X-linked mental retardation Shashi type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	MRXS13; mental retardation, X-linked, syndromic 13.. [+] MRXS13; mental retardation, X-linked, syndromic 13; mental retardation with psychosis, pyramidal signs, and macroorchidism; Lindsay-Burn syndrome; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	MRXS32; mental retardation, X-linked, syndromic 32.. [+] MRXS32; mental retardation, X-linked, syndromic 32 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. [-]
deafness-intellectual disability, Martin-Probst type syndrome	mental retardation, X-linked, syndromic, Martin-Pr.. [+] mental retardation, X-linked, syndromic, Martin-Probst type; Martin-Probst syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. [-]
isolated microphthalmia 6	MCOP6; posterior nonsyndromic microphthalmia	A microphthalmia characterized by autosomal recess..[+] A microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. [-]
isolated microphthalmia 4	MCOP4	An isolated microphthalmia that has_material_basis..[+] An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. [-]
isolated microphthalmia 5	microphthalmia-retinitis pigmentosa-foveoschisis-o.. [+] microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; MCOP5; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen [-]	A microphthalmia characterized by autosomal recess..[+] A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. [-]
isolated microphthalmia 7	MCOP7	A microphthalmia characterized by unilateral micro..[+] A microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. [-]
isolated microphthalmia 2	MCOP2	An isolated microphthalmia characterized by autoso..[+] An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. [-]
isolated microphthalmia 1	MCOP1	A microphthalmia that has_material_basis_in variat..[+] A microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. [-]
isolated microphthalmia 8	MCOP8	A microphthalmia characterized by bilateral sever..[+] A microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. [-]
isolated microphthalmia 3	MCOP3	An isolated microphthalmia characterized by clinic..[+] An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. [-]
Pierson syndrome	microcoria-congenital nephrosis syndrome	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. [-]
patterned macular dystrophy 2	MDPT2; butterfly-shaped pigmentary maculary dystro.. [+] MDPT2; butterfly-shaped pigmentary maculary dystrophy 2 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. [-]
patterned macular dystrophy 3	MDPT3; Martinique crinkled retinal pigment epithel.. [+] MDPT3; Martinique crinkled retinal pigment epitheliopathy [-]	A patterned macular dystrophy characterized by a '..[+] A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. [-]
patterned macular dystrophy 1	MDPT1; butterfly-shaped pigmentary maculary dystro.. [+] MDPT1; butterfly-shaped pigmentary maculary dystrophy 1 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. [-]
renal hypomagnesemia 5 with ocular involvement	Meier-Blumberg-Imahorn syndrome; bilateral macular.. [+] Meier-Blumberg-Imahorn syndrome; bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
transient myeloproliferative syndrome	MST; TAM; transient abnormal myelopoiesis; transie.. [+] MST; TAM; transient abnormal myelopoiesis; transient leukemia; transient leurkemia of Down syndrome; transient myeloproliferative disease [-]	A myeloproliferative neoplasm characterized by leu..[+] A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants. [-]
Seckel syndrome 1	microcephalic primordial dwarfism I; SCKL1	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. [-]
Seckel syndrome 2	microcephalic primordial dwarfism 2; SCKL2; Seckel.. [+] microcephalic primordial dwarfism 2; SCKL2; Seckel-type dwarfism 2 [-]	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. [-]
autosomal dominant non-syndromic intellectual disability 1	MRD1; autosomal dominant mental retardation 1	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1. [-]
autosomal dominant intellectual developmental disorder 2	MRD2; autosomal dominant mental retardation 2; aut.. [+] MRD2; autosomal dominant mental retardation 2; autosomal dominant non-syndromic intellectual disability 2 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. [-]
autosomal dominant non-syndromic intellectual disability 3	MRD3; autosomal dominant mental retardation 3	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3. [-]
autosomal dominant non-syndromic intellectual disability 4	MRD4; autosomal dominant mental retardation 4	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2. [-]
autosomal dominant intellectual developmental disorder 5	MRD5; autosomal dominant mental retardation 5; aut.. [+] MRD5; autosomal dominant mental retardation 5; autosomal dominant non-syndromic intellectual disability 5 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. [-]
autosomal dominant non-syndromic intellectual disability 6	MRD6; autosomal dominant mental retardation 6	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1. [-]
autosomal dominant intellectual developmental disorder 7	MRD7; autosomal dominant mental retardation 7; aut.. [+] MRD7; autosomal dominant mental retardation 7; autosomal dominant non-syndromic intellectual disability 7; DYRK1A syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]
autosomal dominant non-syndromic intellectual disability 8	MRD8; autosomal dominant mental retardation 8	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3. [-]
autosomal dominant non-syndromic intellectual disability 9	MRD9; autosomal dominant mental retardation 9	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3. [-]

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