released

cardiomyopathy, familial hypertrophic, type 20, CMH20, hypertrophic cardiomyopathy type 20, cardiomyopathy familial hypertrophic 20, cardiomyopathy, hypertrophic, 20, hypertrophic cardiomyopathy caused by mutation in NEXN, NEXN hypertrophic cardiomyopathy

MONDO:0013477

hypertrophic cardiomyopathy 20

fe83a6af-bf8b-40be-b622-c84a08e37f22

released

DiGeorge syndrome, DiGeorge anomaly, DGS, Di-George syndrome, 22q deletion syndrome(s), 22q11.2 Deletion syndrome, DGS1, DiGeorge's syndrome, pharyngeal pouch syndrome, DiGeorge syndrome type 1

MONDO:0008564

DiGeorge syndrome

fe463bf9-edd2-4a32-867e-8aca19cf443f

released

myopathy, myofibrillar, type 2, late-onset distal crystallinopathy, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, CRYAB autosomal dominant distal myopathy, myofibrillar myopathy type 2

MONDO:0012130

myofibrillar myopathy 2

fd5ed70a-125a-42f2-bb33-72a25868f068

released

Dowling-Degos disease type 1, dark dot disease, reticular pigment anomaly of flexures

MONDO:0008371

Dowling-Degos disease

fd4d0d46-4fb3-4150-83de-02f0240b0ab9

released

aseptic necrosis of the capital femoral epiphysis, juvenile osteochond-hip/pelvis, Perthes disease, coxa plana, juvenile osteochondrosis of hip and/or pelvis, Legg Calvé Perthes Disease, osteochondrosis of Legg-Calve-Perthes, Legg-Calve-Perthes symptom, pseudocoxalgia, Legg-Calve-Perthes disease, Legg-Perthes disease, Legg-Calvé-Perthes disease, Legg-Calve-Perthes syndrome, Legg-CALVE-Perthes disease, juvenile osteochondrosis of hip and pelvis, osteochondritis of the capital femoral epiphysis, Perthe's disease, Osteochondrosis of the capital femoral epiphysis, Pseudocoxalgia, Calve - Perthes' disease

MONDO:0007885

Legg-Calve-Perthes disease

fbd03092-71a1-4292-a154-d9cbef0be84e

released

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

MONDO:0013761

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

fb845862-0bad-4a8f-a982-09ba56475326

released

RP10, retinitis pigmentosa caused by mutation in IMPDH1, retinitis pigmentosa type 10, retinitis pigmentosa 10, IMPDH1 retinitis pigmentosa

MONDO:0008379

retinitis pigmentosa 10

f9cd437e-2a50-4a3f-8fcc-a114bfe7cd09

released

MVA, hyperimmunoglobulin D with periodic fever syndrome, complete mevalonate kinase deficiency, MKD, mevalonic aciduria, HIDS

MONDO:0012481

mevalonic aciduria

f9643c09-92dc-42e5-b71b-7fdd1c204591

released

XLPP, XLDPP, erythropoietic protoporphyria, X-linked, X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria

MONDO:0010420

X-linked erythropoietic protoporphyria

f7caba37-1bcb-47e9-9607-2ea6394a77aa

released

Coffin-Siris syndrome caused by mutation in SMARCB1, COFFIN-SIRIS syndrome 3, MRD15, intellectual disability, autosomal dominant 15, CSS3, autosomal dominant mental retardation 15, SMARCB1-related BAFopathy, intellectual disability, autosomal dominant type 15, SMARCB1 Coffin-Siris syndrome, mental retardation, autosomal dominant type 15, autosomal dominant intellectual disability 15

MONDO:0013820

intellectual disability, autosomal dominant 15

f70b70dc-7894-4b18-bb87-439f7e659041

released

amyotrophic lateral sclerosis type 15, UBQLN2 amyotrophic lateral sclerosis, amyotrophic lateral sclerosis 15, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, ALS15, amyotrophic lateral sclerosis caused by mutation in UBQLN2, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant

MONDO:0010459

amyotrophic lateral sclerosis type 15

f65639ce-eca6-4125-8b4e-132c766c3b71

released

monilethrix, moniliform hair syndrome

MONDO:0008009

monilethrix

f6423123-7d82-4d20-a857-aacb2d4aff4c

released

MONDO:0001516

spinal muscular atrophy

f6296166-0e27-4223-b49d-e46252c05042

released

AIPL1 Leber congenital amaurosis, LCA4, Leber congenital amaurosis caused by mutation in AIPL1, Leber congenital amaurosis 4, Leber congenital amaurosis type 4

MONDO:0011458

Leber congenital amaurosis 4

f3581aa9-3839-4d26-a784-69dea5976ba8

released

properdin deficiency, X-linked, X-linked recessive, properdin deficiency, X-linked

MONDO:0010713

properdin deficiency, X-linked

f2b02b30-5f2d-41e6-84cb-c5a2df2b2440

released

Leber congenital amaurosis type 9, LCA9, Leber congenital amaurosis 9, Leber congenital amaurosis caused by mutation in NMNAT1, NMNAT1 Leber congenital amaurosis

MONDO:0012056

Leber congenital amaurosis 9

f24a3484-6937-492f-aa47-cd6dc81a73f6

released

spondyloepimetaphyseal dysplasia, Strudwick type

MONDO:0008476

spondyloepimetaphyseal dysplasia, Strudwick type

f06d9da9-70f3-4070-8f6d-5af498c7dbc9

released

rod myopathy, nemaline body disease, nemaline rod myopathy, NEM, nemaline myopathy, NM

MONDO:0018958

nemaline myopathy

eff96d19-0968-4417-b425-e03814ebe884

released

porphyria cutanea tarda, susceptibility to, porphyria cutanea tarda type II, hereditary porphyria cutanea tarda

MONDO:0008296

familial porphyria cutanea tarda

ee458e00-2d0e-40a9-b98a-4e983f590472

released

autosomal dominant isolated neurosensory hearing loss type DFNA, autosomal dominant nonsyndromic hearing loss, autosomal dominant non-syndromic sensorineural hearing loss type DFNA, autosomal dominant non-syndromic neurosensory hearing loss type DFNA, autosomal dominant nonsyndromic hearing impairment, autosomal dominant isolated sensorineural hearing loss type DFNA

MONDO:0019587

autosomal dominant nonsyndromic hearing loss

ec02dbab-dbfa-470e-9956-759dc21dc960

released

EBS2D

MONDO:0030535

epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

ebbd1adc-d5da-45df-9fd9-7fc7b49d4d5b

released

familial isolated dilated cardiomyopathy caused by mutation in CRYAB, dilated cardiomyopathy type 1II, cardiomyopathy, dilated, type 1II, CRYAB familial isolated dilated cardiomyopathy, CMD1II

MONDO:0014073

dilated cardiomyopathy 1II

eb9f835d-1149-435f-b1b4-0f453f097dda

released

immunodeficiency type 14, Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS), immunodeficiency 14A, autosomal dominant, immunodeficiency 14

MONDO:0014222

immunodeficiency 14

eb159419-f5bb-45df-b4ff-23268067249b

released

EBS, generalised severe, generalised severe epidermolysis bullosa simplex, epidermolysis bullosa herpetiformis Dowling-Meara type, EBS, generalized severe, epidermolysis bullosa simplex Dowling-Meara type, EBS-gen sev, epidermolysis bullosa simplex 1A, generalized severe, generalized severe epidermolysis bullosa simplex, EBSDM, epidermolysis bullosa simplex, herpetiformis

MONDO:0007550

epidermolysis bullosa simplex 1A, generalized severe

eab91a8c-8ed8-40c7-b4a5-fc0f4548c516

released

leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia, FA2H hereditary spastic paraplegia, autosomal recessive spastic paraplegia 35, hereditary spastic paraplegia type 35, hereditary spastic paraplegia 35, autosomal recessive spastic paraplegia type 35, hereditary spastic paraplegia caused by mutation in FA2H, SPG35

MONDO:0012866

hereditary spastic paraplegia 35

e8b1f510-3824-4f8d-8355-c06c43e7ac43