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Gene: Myh9 MGI:107717

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Gene Summary

Name:
myosin, heavy polypeptide 9, non-muscle
Synonyms:
D0Jmb2,  myosin IIA,  Myhn1,  E030044M24Rik,  NMHC II-A,  Fltn,  Myhn-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral density Myh9tm1a(EUCOMM)Wtsi HET Early adult 8.12×10-05
increased circulating aspartate transaminase level Myh9tm1a(EUCOMM)Wtsi HET Early adult 5.40×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (2 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Blood vessel N/A heterozygote 100% (4 of 4)
Bone N/A heterozygote 100% (4 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (2 of 4)
Gall bladder N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 25% (1 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 75% (3 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote 25% (1 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote 75% (3 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Peyer's patch N/A heterozygote 75% (3 of 4)
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 75% (3 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 75% (3 of 4)
Trachea N/A heterozygote 75% (3 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 75% (3 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

4 Images

View images
Legacy Phenotype Associated Images
Myh9tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 84 images

Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Myh9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Myh9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr... ORPHA:182050

The table below shows human diseases predicted to be associated to Myh9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr... ORPHA:182050
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hematuria, Benign Familial, 2
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... OMIM:620320
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing... OMIM:301050
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... ORPHA:721
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hearing impairment ORPHA:79087
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le... OMIM:229100
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Galactosemia I
Hemolytic anemia, Cataract, Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactit... OMIM:230400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Amyloidosis, Familial Visceral
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Pos... ORPHA:63
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Sensorineural hearing impairment, Proteinuria, Stage 5 chroni... OMIM:614455
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Anemia ORPHA:510
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Hearing impairment OMIM:274205
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Hematuria, Posterior ... ORPHA:1473
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... OMIM:308940
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia ORPHA:375
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... ORPHA:98826
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, H... ORPHA:67048
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... OMIM:617731
Angioma, Hereditary Neurocutaneous
Hematuria, Horner syndrome OMIM:106070
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... OMIM:615285
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... OMIM:158310
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Keratoconjunc... OMIM:617388
Forsythe-Wakeling Syndrome
Low-set ears, Nephrotic syndrome, Macrotia, Thrombocytopenia OMIM:613606
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia, Corneal arcus OMIM:245900
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... ORPHA:86841
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Asplenia, Hematuria, Coombs-positive hemolytic anemia, Thrombocyto... OMIM:614034
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Sensorineural hearing impairment, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia, Sensorineural hearing impairment ORPHA:3327
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Anemia ORPHA:2668
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... OMIM:619428
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Sensorineural hearing impairment, Optic ... OMIM:598500
Osteoporosis
Osteoporosis OMIM:166710
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Spastic Paraparesis And Deafness
Cataract, Hearing impairment OMIM:312910
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Sensorineural hearing impairment, Telangiectasia, Keratoconjunctivitis sicca... OMIM:278730
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Rhabdoid Tumor
Hematuria, Thrombocytopenia, Anemia, Renal neoplasm ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decrease... OMIM:603585
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Sensorineural hearing impairment, Nephrotic s... OMIM:607426
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,... ORPHA:1652
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, EEG abnormality, Increased... OMIM:617021
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... ORPHA:163934
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Phosphoglycerate Dehydrogenase Deficiency
Developmental cataract, Hypsarrhythmia, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... ORPHA:274
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Congestive heart failure, Sensorineur... ORPHA:225
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Pauci-Immune Glomerulonephritis
Purpura, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal inter... ORPHA:93126
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Re... ORPHA:85443
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Cataract 42
Cataract, Developmental cataract OMIM:115900
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolyt... OMIM:274150
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... OMIM:232800
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Schimke Immuno-Osseous Dysplasia
Proteinuria, Corneal opacity, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy... ORPHA:1830
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis OMIM:615225
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... OMIM:120330
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Abnormal T cell m... OMIM:242900
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Hematuria, Abnormality of the urinary system, Acu... ORPHA:91547
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Nathalie Syndrome
Abnormal EKG, Cataract, Hearing impairment OMIM:255990
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disea... ORPHA:650
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Thrombocytop... ORPHA:275555
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Hematuria, Anemia, Thrombocytopenia ORPHA:90060
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Posteriorly ro... OMIM:608233
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Nephritis, Thrombocytopenia OMIM:274240
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic a... ORPHA:35858
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Malar rash, Leukopenia, Mitral... OMIM:301080
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Thrombocytopenia OMIM:243500
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Chronic oral candidiasis, Anemia OMIM:616740
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Granulom... OMIM:619858
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive hearing impair... ORPHA:276621
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Drug-Induced Lupus Erythematosus
Hematuria, Thrombocytopenia, Anemia ORPHA:231111
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... OMIM:615244
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... OMIM:146255
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Opacification... OMIM:215250
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Trichomegaly
Cataract OMIM:190330
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Splenomegaly, Optic atrophy, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental... OMIM:617303
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Leukopenia, Nephrotic syndrome, Abnormal... ORPHA:93552
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Keratoconjunctivitis s... ORPHA:91138
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Sensorineural hearing impairment, Nephrotic syndrome, Nephropathy, Anemia ORPHA:1192
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia OMIM:152700
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Hematuria, Internal hemo... ORPHA:90308
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Prolonged bleeding time, Pulmonic stenosis, Abnormal helix mor... ORPHA:638
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria, Corneal opacity ORPHA:1765
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Non-Functioning Paraganglioma
Pulsatile tinnitus, Elevated urinary norepinephrine level, Cranial nerve compression, Elevated ur... ORPHA:94080
Sengers Syndrome
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, 3-Methylglutaconic acidur... OMIM:212350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Zika Virus Disease
Subcutaneous hemorrhage, Maculopapular exanthema, Skin rash, Arthritis, Transient hearing impairm... ORPHA:448237
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive hearing impair... ORPHA:29072
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Bone marrow hypocellularity... OMIM:616435
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Hereditary Mucoepithelial Dysplasia
Hematuria, Cataract, Corneal dystrophy, Abnormality of the bladder ORPHA:1839
Atelis Syndrome 1
Cataract, Eczema, Bronchiectasis, Anemia, Leukopenia, Microtia, Thrombocytopenia OMIM:620184
Renal Nutcracker Syndrome
Orthostatic hypotension, Proteinuria, Hematuria, Renal artery stenosis, Abnormal autonomic nervou... ORPHA:71273
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Pericarditis, Myositis, S... ORPHA:809
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, ... OMIM:256550
Congenital Rubella Syndrome
Cataract, Corneal opacity, Skin rash, Splenomegaly, Sensorineural hearing impairment, Aplasia/Hyp... ORPHA:290
Cednik Syndrome
Proteinuria, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Macrotia, Abnor... ORPHA:66631
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Low-set ears, Thrombocytopenia, Posteriorly rotated ears OMIM:614727
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Brushfield spots, Sensorineur... OMIM:214100
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... OMIM:301000
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Optic atr... OMIM:619487
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Renal insufficiency, Anemia, Renal hypoplasia/aplasia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria, Hearing ... ORPHA:86818
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Low-frequency sensorineural hearing impairment, Hepatosplenomegal... OMIM:613101
Amme Complex
Hematuria, Sensorineural hearing impairment, Astigmatism, Elliptocytosis OMIM:300194
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis OMIM:260570
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria ORPHA:284400
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Ri... ORPHA:90291
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hematuria, Thrombocyt... ORPHA:77259
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia,... OMIM:618886
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Sensorineural hearing impairment,... ORPHA:36412
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Nail-Patella Syndrome
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Sensorineural hearin... OMIM:161200
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Vesicoureteral reflux, Conductive hearing impairment, Small earlobe, Ch... ORPHA:567
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Cataract ORPHA:79238
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia ORPHA:100024
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... OMIM:619644
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Majeed Syndrome
Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochrom... ORPHA:77297
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Conjunc... ORPHA:3392
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sensorineural hearing impairment,... OMIM:249270
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Sensorineu... OMIM:222300
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... OMIM:603903
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Low-set ears OMIM:616901
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Melena, Nephrocalcinosis, Prolong... OMIM:276700
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Epistaxis, Ocular albinism, Hematochezia, Cardiomyo... OMIM:203300
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropenia, Pancreatit... ORPHA:79312
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Telangiectasia, Interstitial p... ORPHA:454831
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Nephroblastoma
Hematuria, Nephroblastoma, Aniridia ORPHA:654
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Proteinuria OMIM:620010
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Renal insufficiency, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia ORPHA:27
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Prolonged QT interval, Aplastic anemia, Maculo... ORPHA:398124
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Normochromic anemia, Glomerular scle... ORPHA:247691
Specific Granule Deficiency 2
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Recurre... OMIM:617475
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Splenomegaly, Optic atrophy, Generalized aminoaciduria, Corneal scarring, EEG ... ORPHA:404454
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:619603
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy, Abnormality of neutrophils ORPHA:154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... OMIM:150550
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... ORPHA:824
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineural hearing... ORPHA:47
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Sensorineural hearing impairment,... ORPHA:49827
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Urachal Cyst
Dysuria, Abscess, Pyuria, Leukocytosis, Urachus fistula, Hematuria ORPHA:488
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Renal amyloidosis, Conjunctivitis, Hearing impairment OMIM:120100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Hypoplasia of the antihelix, Abnormal antihelix morphology, Cataract, Hearing impairment ORPHA:2489
Transaldolase Deficiency
Thrombocytopenia, Abnormality of the kidney, Anemia, Hepatosplenomegaly ORPHA:101028
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... ORPHA:507
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Babesiosis
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... OMIM:175780
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Thrombocytopenia OMIM:619751
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... ORPHA:244242
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... ORPHA:49041
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei OMIM:615578
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia ORPHA:536
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Castleman Disease
Renal insufficiency, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral obstruction, ... ORPHA:160
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased ... ORPHA:101096
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Arima Syndrome
Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Renal corticomed... OMIM:243910
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Sensorineural hearing impairment, Va... ORPHA:1467
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulo... OMIM:251000
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Proteinuria, Keratitis, Sensorineural hearing impairment, Chronic kidney disease, Stage... ORPHA:1018
Fabry Disease
Renal insufficiency, Proteinuria, Corneal dystrophy, Myocardial infarction, Angina pectoris, Tran... OMIM:301500
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Symblepharon, Limbal stem cell deficie... OMIM:618175
Stt3B-Cdg
Micropenis, Optic atrophy, Thrombocytopenia ORPHA:370924
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Sensorineural h... ORPHA:2363
Muckle-Wells Syndrome
Episcleritis, Skin rash, Splenomegaly, Nephropathy, Vasculitis, Optic atrophy, Uveitis, Nephrotic... ORPHA:575
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ... OMIM:304790
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... OMIM:300908
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... ORPHA:713
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:614520
Glycogen Storage Disease Ib
Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neutropenia, Enla... OMIM:232220
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment, Hepatosplenomegaly OMIM:614885
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Thrombocytosis, Impaired... ORPHA:324636
Fabry Disease
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Corneal ... ORPHA:324
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Chronic kidn... ORPHA:1855
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Optic atrophy, Thrombocytopenia OMIM:615597
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disease, Bilateral rena... OMIM:166300
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... OMIM:251300
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Hematuria, Tubulointerstitial nep... ORPHA:183
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Recurrent corneal erosions, Glomerular sclerosis, Corneal ulceration, Ab... OMIM:223900
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymphocytosis, Hemo... OMIM:308240
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Agel Amyloidosis
Cataract, Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjun... ORPHA:85448
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... OMIM:614700
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Cataract, Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged... OMIM:616271
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Eczema, Cerebellar hemorrhage, Hyperglyc... OMIM:606054
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... OMIM:259700
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141184
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Thrombocytopenia, Splenomegaly, Sensorineural hearing impairm... ORPHA:540
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Sensorineural hearing impairment, Optic disc drusen, Hyperthreoninuria OMIM:204000
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Skin rash, Abnormal auditory evoked potentials OMIM:617523
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Cataract, Anterior chamber flare, Renal neutrophilic tubulitis, R... ORPHA:91500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Eczema, Thrombocytopenia, Conges... ORPHA:508542
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Conjunctival hyperemia, Abn... ORPHA:95455
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Low... OMIM:617729
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hematuria, Focal segmental glomeruloscleros... OMIM:232240
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Conjunctivitis, Chondritis, Glomerulopathy, Hepatitis, Scleriti... ORPHA:728
Portal Hypertension, Noncirrhotic, 2
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Oliguria, Acute tu... ORPHA:340
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... OMIM:616050
Felty Syndrome
Episcleritis, Recurrent urinary tract infections, Pericarditis, Sinusitis, Splenomegaly, Recurren... ORPHA:47612
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Leukopenia, Chronic otitis media, Anemia, Hearing impairment ORPHA:33355
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Optic atrophy, Hearing impairment OMIM:616239
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Absent circulating B cells, Eczematoid d... OMIM:619693
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... ORPHA:99828
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Cinca Syndrome
Abnormality of thrombocytes, Abnormality of neutrophils, Hearing impairment, Splenomegaly, Leukoc... ORPHA:1451
Noonan Syndrome 12
Lymphopenia, Atopic dermatitis, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, Hematuria, Nephrot... ORPHA:2035
Vexas Syndrome
Macrocytic anemia, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, C... OMIM:301054
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... OMIM:194380
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Primary Hyperoxaluria
Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disea... ORPHA:416
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... ORPHA:231183
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Posteriorly rotated ears, Skin rash, ... OMIM:610377
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage 5 chronic kidn... OMIM:219800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Renal tubular atrophy, Red... OMIM:208085
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Free Sialic Acid Storage Disease
Splenomegaly, Nephrotic syndrome, Proteinuria, Iris hypopigmentation ORPHA:834
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Developmental cataract, Prolonged prothr... ORPHA:335
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophi... ORPHA:1345
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Gaucher Disease Type 3
Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Thrombocytopenia ORPHA:77261
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... OMIM:600901
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Boutonneuse Fever
Renal insufficiency, Petechiae, Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Throm... ORPHA:83313
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho... OMIM:227650
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... ORPHA:436271
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moderate albuminuria, ... OMIM:619525
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing i... ORPHA:309288
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, B lymphocytopenia OMIM:619851
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chro... OMIM:614376
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... OMIM:235400
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Renal insufficiency, Petechiae, Proteinuria, Renal interstitial amyl... ORPHA:85450
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Hearing impairment ORPHA:858
Shigellosis
Acute colitis, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethrit... ORPHA:810
Prolidase Deficiency
Petechiae, Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, D... OMIM:170100
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Abnormal iris pigmentation, Thickene... ORPHA:2614
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Ecchymosis, Infectious enc... ORPHA:36234
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Cinca Syndrome
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Progr... OMIM:607115
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Normochromic anemia, Neutropenia, Homocystinuria, Thrombocytopenia OMIM:614857
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, An... OMIM:251100
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myo... ORPHA:292
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Cataract, Osteomyelitis, Sensorine... OMIM:162400
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, L... ORPHA:534
Pseudo-Torch Syndrome 1
Renal insufficiency, Cataract, Petechiae, Splenomegaly, Opacification of the corneal stroma, Low-... OMIM:251290
Glycogen Storage Disease Ia
Abnormal bleeding, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kid... OMIM:232200
Acquired Von Willebrand Syndrome
Normocytic anemia, Hematuria, Refractory anemia, Hypochromic anemia ORPHA:99147
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Hemochromatosis, Type 4
Cataract, Osteoarthritis, Cardiomyopathy, Arrhythmia, Anemia OMIM:606069
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Melas
Proteinuria, Sensorineural hearing impairment, Optic atrophy, Focal segmental glomerulosclerosis,... ORPHA:550
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment OMIM:619981
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Giant Cell Arteritis
Renal insufficiency, Abnormality of thrombocytes, Optic atrophy, Hematuria, Conductive hearing im... ORPHA:397
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... ORPHA:2686
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Pellagra-Like Syndrome
Cataract, Skin rash OMIM:260650
Wilson Disease
Splenomegaly, Hepatitis, Anemia, Kayser-Fleischer ring, Arthritis, Acute hepatitis, Bruising susc... ORPHA:905
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbi... ORPHA:85212
Alagille Syndrome 1
Duplicated collecting system, Posterior embryotoxon, Cataract, Band keratopathy, Multiple small m... OMIM:118450
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis... ORPHA:261222
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, U... ORPHA:90321
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney ORPHA:3121
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Telangiectasia, Acute lymphoblastic leukemia, Astigmatism,... OMIM:606593
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Cranial nerv... OMIM:259710
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Sialidosis Type 1
Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Decreased nerve cond... ORPHA:812
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... OMIM:220110
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral ren... OMIM:308205
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Severe Hemophilia A
Anemia, Macroscopic hematuria ORPHA:169802
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Large earlobe, Macrotia ORPHA:2715
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Combined Oxidative Phosphorylation Deficiency 14
Anemia, EEG abnormality, Aminoaciduria, Thrombocytopenia, Hearing impairment OMIM:614946
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Pancreatitis OMIM:618805
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Hepatitis, Leukopenia, Thrombocytopenia, Iris hypopigme... ORPHA:381
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
EEG abnormality, Sensorineural hearing impairment, Thrombocytopenia OMIM:616577
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Megaloblastic anemia, Cystathioninuria, Methylmalonic aciduria, Anemia, ... OMIM:277380
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Recurrent skin infecti... ORPHA:33001
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Corneal opacity, Optic nerve hypoplasia, Posteriorly rotated ears, ... OMIM:301056
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Optic neuropathy, Calcium oxalate nephrolithiasis, Optic atro... OMIM:259900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis, Hypochromic microcy... ORPHA:3240
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Glycosuria, N... OMIM:613404
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Acute kidney injury ORPHA:57
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconj... OMIM:617718
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Leukocytosis, Oliguria, Leukopenia, Lymphopenia, Thro... ORPHA:319213
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switc... OMIM:614878
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Q Fever
Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Granuloma, Thrombocytopenia ORPHA:781
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepatosplenome... OMIM:612541
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Macrotia, Posteriorly rotated ears, Thrombocytopenia OMIM:619980
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials OMIM:619260
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Posteriorly rotated ears, Iris coloboma, Proteinuria ORPHA:2143
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Posteriorly rotated ears, Blue irides, Low-set ears, Pul... OMIM:610733
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T... OMIM:253270
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Cataract, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kid... OMIM:268315
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... OMIM:619743
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Sensorineural hearing impairment, Moderate albuminuria, Hydronephrosis OMIM:619269
Lathosterolosis
Hypoplasia of penis, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidne... ORPHA:46059
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Cataract, Abnormality of neutrophils, Hearing impairment, Ocula... ORPHA:2720
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Congenital sensorineural hearing impairment, Sensorineural hearing impairmen... OMIM:619147
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Iris... ORPHA:167
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Subcapsular cataract, Hearing impairment ORPHA:414
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Prolonged bleeding time, Bruising susceptibility, Hearing impairment OMIM:616229
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith... ORPHA:18
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hypercalciuria, 3-Methyl... OMIM:557000
Rift Valley Fever
Hematuria, Thrombocytopenia, Anemia ORPHA:319251
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc... ORPHA:79277
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,... ORPHA:900
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Unilateral renal agenesis, Splenomegaly, Optic atrophy, Proximal tubulopathy, Hyper... OMIM:614576
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Myocardial... ORPHA:36426
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... OMIM:227645
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Macrophage Activation Syndrome
Increased inflammatory response, Splenomegaly, Hepatitis, Anemia, Hemophagocytosis, Neutropenia, ... ORPHA:158061
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Renal hypoplasia, Anemia, Leukopenia, Microtia, Microphallus, Bone... OMIM:603467
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Macs Syndrome
Prolonged bleeding time, Urethral stenosis, Bronchiectasis, Recurrent aphthous stomatitis, Bruisi... OMIM:613075
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubuloint... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Anemia, Arthritis, Panniculitis, Conjunctivitis, Ly... OMIM:617591
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Renal tubular dysfunction, Aminoaciduria, Neph... ORPHA:213
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti... ORPHA:99827
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Petechiae OMIM:617397
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Sensorineural hearing impairment, Proteinuria, Renal artery stenosis OMIM:209010
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Hereditary Hemorrhagic Telangiectasia
Hematuria, Conjunctival telangiectasia, Nephrolithiasis, Microcytic anemia ORPHA:774
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Alg8-Cdg
Cataract, Optic atrophy, Anemia, Low-set ears, Thrombocytopenia ORPHA:79325
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... ORPHA:464343
Avian Influenza
Pneumonia, Congestive heart failure, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia... ORPHA:454836
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,... OMIM:230800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Chronic otitis media, Thromboc... ORPHA:169090
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... OMIM:613990
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepa... ORPHA:319218
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pediatric-Onset Graves Disease
Episcleritis, Atrial fibrillation, Keratitis, Splenomegaly, Congestive heart failure, Neutropenia... ORPHA:525731
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, B lymphocytopenia, Dec... OMIM:618048
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Thrombocytopenia OMIM:611126
Ethylene Glycol Poisoning
Renal insufficiency, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Gaucher Disease
Pancytopenia, Proteinuria, Corneal opacity, Splenomegaly, Anemia, Hematuria, Thrombocytopenia, He... ORPHA:355
Galactokinase Deficiency
Cataract, Sensorineural hearing impairment, Hepatosplenomegaly, Increased level of galactitol in ... ORPHA:79237
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:464329
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Hematuria ORPHA:761
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals OMIM:219900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti... OMIM:604278
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumonitis, Chronic... OMIM:616433
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Oliguria, Enterocol... ORPHA:90051
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, S... OMIM:612674
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Posteriorly rotated ears, Nephrocalcinosis, Low-set ears OMIM:617370
Donnai-Barrow Syndrome
Cataract, Posteriorly rotated ears, Proteinuria, Non-acidotic proximal tubulopathy, Sensorineural... OMIM:222448
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Cupped ear, Pers... OMIM:617052
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Cataract, Sensorineural hearing impairment, Arterial rupture, Low-set ears, Bruising susceptibili... OMIM:612394
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Posteriorly rotated ears, Hemolytic-uremic syndrome, Giant plat... OMIM:611209
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hashimoto thyroi... ORPHA:83601
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral regurgitation, Increased m... ORPHA:261250
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Congenital Factor V Deficiency
Hematuria ORPHA:326
Wagro Syndrome
Cataract, Corneal opacity, Proteinuria, Hypertension, Low-set ears, Aniridia, Nephroblastoma OMIM:612469
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Abnormal natural ... ORPHA:79124
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit... ORPHA:1304
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Marburg Hemorrhagic Fever
Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage,... ORPHA:99826
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Leukopenia, EEG abnormality, Pulmonar... ORPHA:974
Microcephaly, Epilepsy, And Diabetes Syndrome 1
EEG with burst suppression, Moderate albuminuria, Optic atrophy, Hypsarrhythmia OMIM:614231
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... ORPHA:124
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Mucopol... ORPHA:585
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... ORPHA:85410
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... ORPHA:391487
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephrocalcinosis, Neut... OMIM:260400
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, Optic atrophy, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Splenomega... OMIM:277900
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, My... ORPHA:90068
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Deafness, Unilateral
Unilateral deafness OMIM:125000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Cataract, Hypoplasia of penis, Renal insufficiency, Telangiectasia of the skin, Sen... ORPHA:85321
Neurotrophic Keratopathy
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... ORPHA:137596
Mirage Syndrome
Recurrent urinary tract infections, Petechiae, Hypospadias, Thrombocytopenia, Intracranial hemorr... OMIM:617053
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis, Peri... ORPHA:90038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunc... ORPHA:488618
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panuveitis, Panniculiti... OMIM:301081
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair... ORPHA:1307
Chronic Mucocutaneous Candidiasis
Hematuria, Recurrent urinary tract infections ORPHA:1334
Lysinuric Protein Intolerance
Abnormal bleeding, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepatosplenomegaly... ORPHA:470
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri... OMIM:609049
Necrotizing Enterocolitis
Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia ORPHA:391673
Lysinuric Protein Intolerance
Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hyperlysinuria, ... OMIM:222700
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Thrombocytopenia, Low-set ears, Anemia OMIM:608104
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti... ORPHA:279914
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Renal agenesis, Hearing impairment, Ectopic kidney, R... OMIM:227646
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Immunodeficiency 22
Pericarditis, Abscess, Capillary leak, Anemia, Panniculitis, Chronic oral candidiasis, Decreased ... OMIM:615758
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Abnormality of the kidney, Sensorineural hearing impairment, H... ORPHA:3320
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infecti... ORPHA:445038
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Moderate Hemophilia A
Hematuria ORPHA:169805
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Low-set ears OMIM:191830
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Antiphospholipid Syndrome, Familial
Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia OMIM:107320
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocyt... ORPHA:94093
Galloway-Mowat Syndrome
Proteinuria, Nephrotic syndrome, EEG abnormality, Hypoplasia of the ear cartilage, Nephropathy, M... ORPHA:2065
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Recurrent urinary tract infections, Anemia ORPHA:169105
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Fanconi Anemia, Complementation Group B
Renal agenesis, Aplastic anemia, Overfolded helix, Low-set ears, Micropenis, Thrombocytopenia OMIM:300514
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia OMIM:255125
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, Pe... ORPHA:79259
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Sensorineural hearing impairment, Chordee, Low-se... OMIM:300519
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Periodonti... ORPHA:2791
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... OMIM:259720
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Telangiectasia, Low-set ears, Thrombocyto... OMIM:606003
Overlap Myositis
Abnormality of the kidney, Raynaud phenomenon, Leukopenia, Hypertension, Arthritis, Rheumatoid ar... ORPHA:206572
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Tubulointerstitial nephrit... ORPHA:488627
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... OMIM:221900
Yellow Fever
Abnormal bleeding, Shock, Renal insufficiency, Neutrophilia, Anuria, Acute pancreatitis, Supraven... ORPHA:99829
Proximal Myotonic Myopathy
Cataract ORPHA:606
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... OMIM:131300
Leptospirosis
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary casts... ORPHA:509
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis ORPHA:158000
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal incisura morphology, Conductive hearing impair... OMIM:122470
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... OMIM:193235
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Epistaxis, Abnormality of ne... ORPHA:33226
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosin... OMIM:308230
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Splenomegaly, Vasculitis, Cardiomyopathy, Thrombocytopenia, Purpura OMIM:225750
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Renal insufficiency, Proteinuria, Cardiac conduction abn... ORPHA:699
Noonan Syndrome 9
Prolonged prothrombin time, Hydroureter, Pulmonic stenosis, Prominent corneal nerve fibers OMIM:616559
Takenouchi-Kosaki Syndrome
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Increased mean platelet volume,... OMIM:616737
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Hypsarrhythm... ORPHA:20
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Leukocytosis, Vasculitis, Myocard... ORPHA:2331
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:612843
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Optic atrophy, Hematuria, Multiple renal cysts, Renal ang... ORPHA:538
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Abnormality of the per... ORPHA:48435
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Anemia, Hearing impairment OMIM:619377
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endot... ORPHA:209959
Recon Progeroid Syndrome
Attached earlobe, Anemia, Keratoconjunctivitis sicca, Microtia, Thrombocytopenia OMIM:620370
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Raynaud phenomen... ORPHA:3260
Atelis Syndrome 2
Protruding ear, Anemia, Vitreous hemorrhage, Developmental cataract, Supravalvar pulmonary stenos... OMIM:620185
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca OMIM:619016
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Optic atrophy, Thrombocytopenia OMIM:617710
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... OMIM:310600
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Prolonged prothrombin time, Proximal t... OMIM:212065
Ogden Syndrome
Global glomerulosclerosis, Thrombocytopenia, Protruding ear, Iron deficiency anemia, Polycystic k... OMIM:300855
Dyskeratosis Congenita
Cataract, Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly,... ORPHA:1775
Caroli Syndrome
Abnormal bleeding, Liver abscess, Abnormality of the kidney, Portal hypertension, Cholangitis, He... ORPHA:480520
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:133540
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Cranial nerve compression, Optic atrophy, Proximal renal tubular acidosis, Nephroli... ORPHA:2785
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Heart murmur, Microtia, Multiple bladder diverticula, Recurrent otitis media, Hearin... ORPHA:2728
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthrit... ORPHA:342
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Splenomegaly, Red urine, Corneal scarring, Conjunctivitis, Pink urine, Thromboc... OMIM:263700
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Prolonged prothrombin time, Extramedullary hematopoiesis, Renal cyst ORPHA:79303
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morphology, Renal tubular dysfun... ORPHA:411629
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Elevated hemoglobin A1c OMIM:619127
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Ohdo Syndrome
Microtia, Proteinuria, Hearing impairment OMIM:249620
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Hypertrophic cardiom... OMIM:618775
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... ORPHA:79282
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia, Hearing impairment ORPHA:2307
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Juvenile cataract, Hypospadias, Cataract, Cupped ear, Multifocal epileptiform discharges, Protrud... OMIM:619475
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocuta... OMIM:240300
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis... OMIM:615846
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Iris coloboma, Cataract, Lens subluxation OMIM:216820
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Cataract, Hypospadias, Eczema, Abnormality of neutrophils, Pro... ORPHA:235
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Farber Disease
Corneal opacity, Hepatosplenomegaly, Anemia, Arthritis, Abnormal conjunctiva morphology, Opacific... ORPHA:333
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Cockayne Syndrome A
Renal insufficiency, Cataract, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked p... OMIM:216400
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Low-set ears, Sensorineural hearing impairment OMIM:620075
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia, Pterygium OMIM:224230
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Optic atrophy, Corneal scarring, Hypertension, Hearing impairment OMIM:610965
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Recurrent urinary tract infections, ... ORPHA:99027
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Facial palsy, Keratitis, Sple... ORPHA:90340
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... OMIM:608710
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Epistaxis, Abnorma... ORPHA:79430
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... ORPHA:457351
Hepatoerythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Red-brown... ORPHA:95159
Glycogen Storage Disease Xii
Normocytic anemia, Splenomegaly, Hemoglobinuria, Normochromic anemia, Nonspherocytic hemolytic an... OMIM:611881
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sin... OMIM:251260
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthrit... ORPHA:247353
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscular volume,... OMIM:127550
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Osteoarthritis, Arterial rupture, Bladder diver... ORPHA:287
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Hypertensive crisis, Acute colitis, Pneumonia, Myocardit... ORPHA:544482
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... ORPHA:51636
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Urethral stenosis, Optic a... OMIM:305000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Leukopen... ORPHA:797
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Cockayne Syndrome
Urinary incontinence, Lentiglobus, Renal hypoplasia, Nephrotic syndrome, Abnormal cornea morpholo... ORPHA:191
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Anemia, Facial diplegia, Thrombocytopenia ORPHA:31150
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... OMIM:102700
Aymé-Gripp Syndrome
Pericarditis, Cataract, Posteriorly rotated ears, Proteinuria, Sensorineural hearing impairment, ... ORPHA:1272
Desmosterolosis
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... OMIM:602398
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Generalized aminoaciduria, Thrombocytopenia OMIM:251880
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... OMIM:259775
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... OMIM:269200
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Prolonged prothrombin time, Dicarboxylic aciduria, Lacticaciduria OMIM:613070
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... ORPHA:117
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... OMIM:105650
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, P... ORPHA:32960
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Cataract, Corneal opacity, Eosinophilia, Leukocytosis, P... OMIM:274000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Renal hypoplasia, Anem... OMIM:620005
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Protruding ear, Anemia, Low-set ears, Thrombocytopenia OMIM:620072
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Chronic Graft Versus Host Disease
Pancytopenia, Phimosis, Urinary bladder inflammation, Hematuria, Keratoconjunctivitis sicca, Recu... ORPHA:99921
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Gaucher Disease, Perinatal Lethal
Splenomegaly, Hepatosplenomegaly, Anemia, Microtia, Low-set ears, Neonatal death, Thrombocytopenia OMIM:608013
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Cardiac arrest, Sensorineural hearing impairment, Optic atrophy, Ventricular tachycard... OMIM:616878
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Alg12-Cdg
Abnormal pinna morphology, Hypospadias, Sensorineural hearing impairment, Recurrent pneumonia, Pr... ORPHA:79324
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Astigmatism, Micropenis, Pancreatitis OMIM:619471
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Micropenis, Thrombocytopenia, EEG abnormality OMIM:619005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Renal tubular acidosis, Myoglobinuria, Anemia ORPHA:264580
Tick-Borne Encephalitis
Facial palsy, Leukocytosis, Abnormal cranial nerve morphology, Leukopenia, Abnormal glossopharyng... ORPHA:297
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Oliguria, S... ORPHA:731
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur... OMIM:212750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Splenomegaly, Myoglobinuria, Anemia ORPHA:79240
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Enlarged kidney, Patent urachus, Micropenis, Penoscrot... OMIM:618280
Sympathetic Ophthalmia
Papilledema, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the ant... ORPHA:79098
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobi... OMIM:201475
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Papilledema, Corneal opacity, Abnormality of the ... ORPHA:2072
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Insulin-Resistance Syndrome Type B
Proteinuria, Leukopenia, Glycosuria, Nephritis, Thrombocytopenia ORPHA:2298
Chronic Granulomatous Disease
Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis media, Inflamm... ORPHA:379
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Optic atrophy, Anemia, Intestinal bleeding, Gastrointestinal telangiectas... OMIM:612199
Trisomy 10P
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Jacobsen Syndrome
Hypospadias, Optic atrophy, Microcornea, Low-set ears, Iris coloboma, Thrombocytopenia OMIM:147791
Fibular Hemimelia
Abnormal anterior chamber morphology, Renal dysplasia, Thrombocytopenia ORPHA:93323
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis ORPHA:60025
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... ORPHA:71212
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Eczema, Aplasia/Hypopl... ORPHA:2308
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Ketonuria, Increased urinary glycerol, ... ORPHA:247598
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Increased mean platele... ORPHA:487796
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Microtia, Low-set ears, Recurrent otitis media, Thrombocytopenia ORPHA:261323
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Multifocal epileptiform discharges, Pulmonic stenosis, Sensorineural ... OMIM:614300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Posteriorly rotated ears, Anemia, Microtia, Micropenis, Hydronephrosis, Thrombocytop... ORPHA:163979
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Parkes Weber Syndrome
Myelopathy, Cerebral arteriovenous malformation ORPHA:90307
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Lymphocytosis, Vas... ORPHA:50918
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Oculoauricular Syndrome
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... OMIM:612109
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Sensorineural hearing... OMIM:300972
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Acquired Generalized Lipodystrophy
Acute pancreatitis, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyper... ORPHA:79086
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Cardiomyopathy, Thrombocytopenia ORPHA:572798
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Parotitis, Microcytic anemia, Erythema nodosum, Splenomegaly, Congestive heart fail... OMIM:256040
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:614800
Roberts Syndrome
Cataract, External ear malformation, Long penis, Polycystic kidney dysplasia, Absent earlobe, Thr... ORPHA:3103
Ivic Syndrome
Leukocytosis, Thrombocytopenia, Hearing impairment OMIM:147750
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... ORPHA:79474
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Mend Syndrome
Abnormal auditory evoked potentials, Aortic valve stenosis, Cataract, Low-set ears ORPHA:401973
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Intracranial hemorrh... ORPHA:90062
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Macrotia, Thrombocyt... ORPHA:647
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Un... ORPHA:2036
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Deeah Syndrome
Decreased hemoglobin concentration, EEG abnormality, Low-set ears, Micropenis, Thrombocytopenia, ... OMIM:619004
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Sple... ORPHA:171
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Optic atrophy, Prolonged prothrombin time, 3-Methylglutaconic a... OMIM:618329
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia, Hearing impairment OMIM:301072
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Aicardi-Goutières Syndrome
Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Developmental gla... ORPHA:51
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Facial palsy ORPHA:206549
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Chronic hepatitis, Prolonge... OMIM:614921
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Holoprosencephaly
Hypoplasia of penis, Proteinuria, External ear malformation, Abnormality of the spleen, Optic atr... ORPHA:2162
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Prolonged prothromb... ORPHA:14
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhythmia OMIM:609015
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Oliguria, ST segment depression, Hyp... ORPHA:466650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Monosomy 13Q34
Posteriorly rotated ears, Epistaxis, Fetal pyelectasis, Abnormal earlobe morphology, Hematochezia... ORPHA:96168
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Sclerocornea, Unilateral renal agenesis, Seborrheic d... OMIM:188400
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Optic nerve comp... ORPHA:79078
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... ORPHA:667
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Protruding ea... ORPHA:904
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Osteogenesis Imperfecta
Aortic regurgitation, Mixed hearing impairment, Corneal opacity, Cerebral hemorrhage, Osteoarthri... ORPHA:666
Capillary Malformation-Arteriovenous Malformation
Cerebral arteriovenous malformation ORPHA:137667
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Eczema, Pneumonia, Thrombocyt... OMIM:619991
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorr... ORPHA:790
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time, Dark yellow urine ORPHA:30391
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,... ORPHA:423
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Chronic otitis medi... ORPHA:2750
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadia... OMIM:163950
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria OMIM:619055
Orofaciodigital Syndrome I
Low-set ears, Proteinuria, Polycystic kidney dysplasia, Hearing impairment OMIM:311200
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... ORPHA:77293
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Oroticaciduria OMIM:311250
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Growth delay, Mild postnatal growth retardation, Cerebral arteriovenous... OMIM:150230
Phace Syndrome
Cerebral arteriovenous malformation ORPHA:42775
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:618019
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones OMIM:269150
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation OMIM:175050
Juvenile Polyposis Syndrome
Growth delay, Cerebral arteriovenous malformation ORPHA:2929
Pmm2-Cdg
Pericarditis, Cataract, Abnormal pinna morphology, Proteinuria, Angina pectoris, Intracranial hem... ORPHA:79318
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral arteriovenous malformation OMIM:610655
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Cerebral hemorrhage OMIM:616682
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation OMIM:187300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myh9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myh9.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Myh9tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Myh9tm1a(EUCOMM)Wtsi PMC6459510
The mouse genetics toolkit: revealing function and mechanism. Genome biology (June 2011) Myh9tm1a(EUCOMM)Wtsi PMC3218837

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Myh9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Myh9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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