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Disease Synonyms Description Articles Phenotypes
autosomal recessive congenital ichthyosis
lamellar ichthyosis; ARCI; non bullous congenital .. [+]
An ichthyosis that is characterized by autosomal r..[+]
autosomal recessive congenital ichthyosis 3
lamellar ichthyosis 5; ARCI3
An autosomal recessive congenital ichthyosis chara..[+]
autosomal recessive congenital ichthyosis 4A
lamellar ichthyosis 2; ARCI4A; ichthyosis congenit.. [+]
An autosomal recessive congenital ichthyosis chara..[+]
autosomal recessive congenital ichthyosis 8
lamellar ichthyosis 4; late-onset lamellar ichthyo.. [+]
An autosomal recessive congenital ichthyosis chara..[+]
restrictive dermopathy
Lethal tight skin contracture syndrome; lethal res.. [+]
A skin disease characterized by thin, tightly adhe..[+]
1 articles
hypomyelinating leukodystrophy 7
leukoencephalopathy-ataxia-hypodontia-hypomyelinat.. [+]
A hypomyelinating leukodystrophy characterized by ..[+]
syndromic X-linked intellectual disability Lubs type
Lubs X-linked mental retardation syndrome; MECP2 d.. [+]
A syndromic X-linked intellectual disability chara..[+]
X-linked intellectual disability-psychosis-macroorchidism syndrome
Lindsay-Burn syndrome; mental retardation with psy.. [+]
A syndromic X-linked intellectual disability chara..[+]
Norman-Roberts syndrome
lissencephaly 2; lissencephaly syndrome, Norman-Ro.. [+]
A lissencephaly that has_material_basis_in homozyg..[+]
distal myopathy 1
Laing early-onset distal myopathy; Laing distal my.. [+]
A distal myopathy that is characterized by autosom..[+]
familial partial lipodystrophy type 6
LIPE-related FPLD; LIPE-related familial partial l.. [+]
A familial partial lipodystrophy characterized by ..[+]
hereditary lymphedema IB
LMPH1B
A hereditary lymphedema characterized by autosomal..[+]
hereditary lymphedema I
LMPH1; congenital primary lymphedema; PCL; Nonne-M.. [+]
A hereditary lymphedema characterized by autosomal..[+]
hereditary lymphedema II
late-onset lymphedema; lymphedema preacox; LMPH2; .. [+]
A hereditary lymphedema characterized by onset aro..[+]
diphthamide deficiency syndrome 1
Loucks-Innes syndrome; DEDSSH1; developmental dela.. [+]
A diphthamide deficiency syndrome that has_materia..[+]
schwannomatosis 2
LZTR1-related schwannomatosis; neurofibromatosis 3.. [+]
A schwannomatosis that has_material_basis_in germl..[+]
inflammatory poikiloderma with hair abnormalities and acral keratoses
LIPHAK syndrome; LIPHAK; IPHAK
A skin disease characterized by mottled hyper- and..[+]
peeling skin syndrome 2
localized peeling skin syndrome; acral peeling ski.. [+]
A peeling skin syndrome that has_material_basis_in..[+]
autosomal recessive spinocerebellar ataxia 19
Lichtenstein-Knorr syndrome; SCAR19
An autosomal recessive cerebellar ataxia that is c..[+]
myofibrillar myopathy 3
LGMD 1A; myotilinopathy; autosomal dominant limb-g.. [+]
A myofibrillar myopathy that has_material_basis_in..[+]
multiple congenital anomalies-hypotonia-seizures syndrome 3
light fixation seizure syndrome; M syndrome
A multiple congenital anomalies-hypotonia-seizures..[+]
primary mediastinal B-cell lymphoma
Large cell lymphoma of the mediastinum; Mediastina.. [+]
A diffuse large B-cell lymphoma that is is charact..[+]
acquired generalized lipodystrophy
Lawrence syndrome
A complete generalized lipodystrophy that is chara..[+]
megalencephalic leukoencephalopathy with subcortical cysts 1
leukoencephalopathy with swelling and cysts; Van D.. [+]
A megalencephalic leukoencephalopathy with subcort..[+]
Noonan syndrome with multiple lentigines 2
LEOPARD syndrome 2
A Noonan syndrome with multiple lentigines that ha..[+]
Noonan syndrome with multiple lentigines 3
LEOPARD syndrome 3
A Noonan syndrome with multiple lentigines that ha..[+]
autosomal recessive limb-girdle muscular dystrophy type 2Z
limb-girdle muscular dystrophy 21
An autosomal recessive limb-girdle muscular dystro..[+]
immunoglobulin light chain amyloidosis
Light chain amyloidosis; AL amyloidosis; Amyloidos.. [+]
An amyloidosis that is characterized by misfolded ..[+]
epidermolysis bullosa simplex with muscular dystrophy
limb-girdle muscular dystrophy with epidermolysis .. [+]
An syndrome characterized by early childhood onset..[+]
split hand-foot malformation
lobster-claw deformity; split-hand deformity
A bone development disease characterized by malfor..[+]
hypogonadotropic hypogonadism 23 with or without anosmia
Leydig cell hypoplasia due to luteinizing hormone .. [+]
A hypogonadotropic hypogonadism that has_material_..[+]
brain small vessel disease 1
leukoencephalopathy with Axenfeld-Riegar anomaly; .. [+]
A brain small vessel disease that is characterized..[+]
carnitine palmitoyltransferase I deficiency
L-CPT1 deficiency; carnitine palmitoyl transferase.. [+]
A lipid metabolism disorder that is characterized ..[+]
cataract 23
lamellar cataract 23; CTRCT23
A cataract that has_material_basis_in heterozygous..[+]
autosomal recessive limb-girdle muscular dystrophy type 2A
LGMD2A; limb-girdle muscular dystrophy due to calp.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2B
limb-girdle muscular dystrophy type 3; limb-girdle.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2C
limb-girdle muscular dystrophy due to gamma-sarcog.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2D
LGMD2D; Alpha-sarcoglycanopathy; Duchenne-like aut.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy due to beta-sarcogl.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2F
limb-girdle muscular dystrophy due to delta-sarcog.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2G
limb-girdle muscular dystrophy due to telethonin d.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2H
LGMD2H; limb-girdle muscular dystrophy due to TRIM.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2J
LGMD2J; muscular dystrophy, limb-girdle, type 2J
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD2L; muscular dystrophy, limb-girdle, type 2L
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD2Q; autosomal recessive limb-girdle muscular d.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD2S; muscular dystrophy, limb-girdle, type 2S
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2W
LGMD2W; muscular dystrophy, limb-girdle, type 2W
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2Y
LGMD2Y; autosomal recessive muscular dystrophy due.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2X
LGMD2X; muscular dystrophy, limb-girdle, type 2X
An autosomal recessive limb-girdle muscular dystro..[+]
autosomal recessive limb-girdle muscular dystrophy type 2O
LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa.. [+]
An autosomal recessive limb-girdle muscular dystro..[+]

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