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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,  Myhn-1,  Fltn

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 circulating aspartate transaminase level Myh9tm1a(EUCOMM)Wtsi HET Early adult 5.40×10-05
increased bone mineral density Myh9tm1a(EUCOMM)Wtsi HET Early adult 8.12×10-05
preweaning lethality, complete penetrance Myh9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presen... 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
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination 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 auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... 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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
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
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, 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
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
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
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presen... ORPHA:182050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
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 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Hearing impairment, Stage 5 chronic kidney disease, Renal insu... OMIM:620536
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, 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
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive 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 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 55
Abnormal vestibular function, Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Abnormal vestibular function, Hearing impairment OMIM:609946
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
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 37
Sensorineural hearing impairment OMIM:618533
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 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, 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
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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
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 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria, Sensorineur... OMIM:620320
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Impaired lympho... OMIM:617006
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Cata... OMIM:203780
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Ante... OMIM:301050
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... OMIM:601399
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hearing impairment, Stage 5 chronic kidney disease, Hematuria... OMIM:618349
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Splenomegaly,... ORPHA:721
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt... ORPHA:3318
Acquired Partial Lipodystrophy
Hearing impairment, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Reduced erythrocyte galactose-1-phosphate uridylyltransfer... OMIM:230400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Elevated urinary formiminoglutamic acid level, Hypersegmenta... OMIM:229100
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... OMIM:618882
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Nathalie Syndrome
Cataract, Arrhythmia, Sensorineural hearing impairment ORPHA:2663
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Sensorineural he... OMIM:614455
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia ORPHA:375
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Lesch-Nyhan Syndrome
Anemia, Hematuria, Renal insufficiency ORPHA:510
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Sensorineural hearing impairment, Hematuria, Posterior embryotoxon, Corn... ORPHA:1473
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Ca... OMIM:308940
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia, Corneal opacity ORPHA:1980
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Recurrent pneumonia, Hearing impairment, Chronic mucocutaneous candidiasis, ... OMIM:158310
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... ORPHA:98826
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar... OMIM:617731
Angioma, Hereditary Neurocutaneous
Hematuria, Horner syndrome OMIM:106070
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, En... OMIM:615285
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Hearing impairment, Cardiomyopathy, 3-Methylglutaconic aciduria,... ORPHA:67048
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Immunodeficiency 53
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Skin rash, Impai... OMIM:617585
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Punctat... OMIM:617388
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Forsythe-Wakeling Syndrome
Low-set ears, Nephrotic syndrome, Thrombocytopenia, Macrotia OMIM:613606
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... ORPHA:3226
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal arcus, Normochromic anemia OMIM:245900
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lymphopenia, Stage 5 ch... OMIM:617575
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Cataract, Hearing impairment, Ne... OMIM:301108
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, M... ORPHA:86841
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Pa... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Sensorineural hearing impairment ORPHA:2820
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria, Chemosis, Coombs-positive hemolytic anemia, Thrombocytosis, As... OMIM:614034
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Glomerulopathy, Anemia ORPHA:2668
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with... OMIM:619428
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia, Sensorineural hearing impairment ORPHA:3327
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
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
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosi... OMIM:598500
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Sensorineural hearing impairment, Telangiectasia... OMIM:278730
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib,... OMIM:603585
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Sensorineural hearing impairment, Proteinuria, ... OMIM:607426
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegal... OMIM:263300
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Rhabdoid Tumor
Anemia, Hematuria, Renal neoplasm, Thrombocytopenia ORPHA:69077
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr... OMIM:258900
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Phosphoglycerate Dehydrogenase Deficiency
Hypsarrhythmia, Thrombocytopenia, Megaloblastic anemia, Developmental cataract OMIM:601815
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract, Sensorineural hearing impairment OMIM:613076
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... ORPHA:88
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Cataract 42
Cataract, Developmental cataract OMIM:115900
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with c... ORPHA:85443
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Thrombocytopenia, Anemia ORPHA:90060
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... OMIM:274150
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Kid Syndrome
Prelingual sensorineural hearing impairment, Keratitis, Posterior blepharitis, Folliculitis, Acne... ORPHA:477
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis OMIM:615225
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Leukopenia, Leukocytosis, Hematuria, Thro... ORPHA:91547
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Reticul... OMIM:232800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc colo... OMIM:120330
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Thrombocytopenia, Anemia, Conjunctivitis OMIM:603552
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ... OMIM:242900
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Nathalie Syndrome
Cataract, Hearing impairment, Abnormal EKG OMIM:255990
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hermansky-Pudlak Syndrome 2
Low-set ears, Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged pla... OMIM:608233
Isovaleric Acidemia
Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Elevated urin... OMIM:243500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Systemic Lupus Erythematosus 17
Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Malar rash, Mitral regurgitation, Optic n... OMIM:301080
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Proteinuria, Membranoproliferative... OMIM:619858
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Sensorineural hearing impairment OMIM:274240
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Sensor... OMIM:615244
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:276621
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Thrombocytopenia ORPHA:231111
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Opacification... OMIM:215250
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Trichomegaly
Cataract OMIM:190330
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Optic atrophy, Leukop... OMIM:617303
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Cryoglobulinemic Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis s... ORPHA:91138
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Hematuria, Internal hemorrhage, Prolonged bleedin... ORPHA:90308
Neurofibromatosis-Noonan Syndrome
Abnormal helix morphology, Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Prolon... ORPHA:638
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Sensorineural hearing impairment, Proteinuria, Anemia, Nephrotic syndrome ORPHA:1192
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Atelis Syndrome 1
Cataract, Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis, ... OMIM:620184
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Sengers Syndrome
Cataract, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensi... OMIM:212350
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria, Corneal opacity ORPHA:1765
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:94080
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:29072
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Hearing impairment, Eczematoid dermatitis, Hypersegmentation of neutrophil n... OMIM:617780
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Inflammation of the large intestine, Recurrent otitis media, Lymp... OMIM:301000
Isolated Agammaglobulinemia
Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Inflammatory abnormality of t... ORPHA:229717
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Zika Virus Disease
Myelitis, Subcutaneous hemorrhage, Transient hearing impairment, Skin rash, Infectious encephalit... ORPHA:448237
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Hearing impairment, Pancytopenia, Acute myeloid leukemia, Thrombocyt... OMIM:616435
Hereditary Mucoepithelial Dysplasia
Hematuria, Cataract, Abnormality of the bladder, Corneal dystrophy ORPHA:1839
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Skin rash, Myositis, Purpura,... ORPHA:809
Neuraminidase Deficiency
Cataract, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-l... OMIM:256550
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Orthostatic hypotension, Abnormal autonomic nervou... ORPHA:71273
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia... OMIM:301110
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Posteriorly rotated ears, Thrombocytopenia, Hemolytic-uremic syndrome OMIM:614727
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Prot... ORPHA:66631
Hermansky-Pudlak Syndrome 6
Epistaxis, Urinary incontinence, Hearing impairment, Bruising susceptibility, Ocular albinism, Re... OMIM:614075
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Sensorineural hearing impairment, Skin ra... ORPHA:290
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Diffuse Neonatal Hemangiomatosis
Anemia, Renal insufficiency, Thrombocytopenia, Renal hypoplasia/aplasia ORPHA:2123
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal insufficiency, Renal tubular dysfunction, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Low-set ears, Abnormal helix morphology, Hearing impairment, Opacificati... OMIM:214100
Amme Complex
Hematuria, Sensorineural hearing impairment, Astigmatism, Elliptocytosis OMIM:300194
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Optic atrophy, Recurrent urinary tract infections, Hypere... OMIM:619487
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia ORPHA:158029
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Hematuria, Proteinuria, Glom... ORPHA:36412
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Arteritis, Lymphadenitis, Urethriti... ORPHA:449395
Small Cell Carcinoma Of The Bladder
Hematuria, Dysuria, Recurrent urinary tract infections ORPHA:284400
Immunodeficiency 108 With Autoinflammation
Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Conjunctival ... ORPHA:3392
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Proteinuria, Congenital thrombocytopenia, Cerebral hemorrhage,... OMIM:618886
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Hearing impairment, Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic... ORPHA:86818
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Thrombocytopenia, Anemia... OMIM:613101
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Acute kidney injury, Right ventricular failure, Nail... ORPHA:90291
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Renal insufficiency, Sensorineural hearing impairment, Hematu... OMIM:161200
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly ORPHA:79238
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Majeed Syndrome
Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Hypochromic microcytic anemia, Congenita... ORPHA:77297
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Posterior embryotoxon, Purpura, Chronic otitis media, Hypospadi... ORPHA:567
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia ORPHA:100024
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Renal insu... OMIM:276700
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... OMIM:613845
Wolfram Syndrome 1
Cataract, Optic atrophy, Hydroureter, Hearing impairment, Cardiomyopathy, Sideroblastic anemia, S... OMIM:222300
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Renal insufficiency, Th... OMIM:619644
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Renal insuf... OMIM:603903
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, Ele... OMIM:603909
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Low-set ears, Methylmalonic aciduria, Cystathio... OMIM:277400
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sen... OMIM:249270
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Pancytopenia,... ORPHA:398124
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... ORPHA:824
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Thrombocytopenia, ... ORPHA:275555
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Low-set ears, Tubulointerstitial nephritis OMIM:616901
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Acute Radiation Syndrome
Cataract, Hypotension, Inflammatory abnormality of the skin, Abnormal bleeding, Lymphopenia, Inte... ORPHA:454831
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Generalized aminoaciduria, Corneal scarring, Splenomegaly, Corneal neovascularizat... ORPHA:404454
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ... ORPHA:49566
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Splenomegaly OMIM:620010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Pancreatitis, Thrombocytopenia,... ORPHA:79312
Nephroblastoma
Hematuria, Aniridia, Nephroblastoma ORPHA:654
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Leukopenia, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nephropathy, Gastrointestinal hemorrhage, Proteinuria, Glomerular sclerosis, N... ORPHA:247691
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Low-set ears, Stage 5 chronic kidney disease, Diffuse mesangi... OMIM:619603
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Specific Granule Deficiency 2
Low-set ears, Recurrent pneumonia, Recurrent otitis media, Simple ear, Absent neutrophil specific... OMIM:617475
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the kidney ORPHA:101028
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach... ORPHA:49827
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Sensorineural hearing impairment, Sinus... ORPHA:47
Babesiosis
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis, Hearing impairment, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Cataract, Hypoplasia of the antihelix, Hearing impairment ORPHA:2489
Urachal Cyst
Leukocytosis, Abscess, Hematuria, Urachus fistula, Dysuria, Pyuria ORPHA:488
Castleman Disease
Ureteral obstruction, Renal insufficiency, Hematuria, Thrombocytopenia, Anemia, Decreased mean co... ORPHA:160
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Leishmaniasis
Abnormal bleeding, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thromb... ORPHA:507
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Ischemic stroke, Peripap... OMIM:175780
Stuve-Wiedemann Syndrome 2
Neonatal death, Thrombocytopenia, Stillbirth OMIM:619751
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria ORPHA:549
Combined Oxidative Phosphorylation Deficiency 18
Methylmalonic aciduria, Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Skin rash, Astigmatism, Optic disc pallor, Abnormality of vi... OMIM:617523
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... ORPHA:49041
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, Internal h... ORPHA:244242
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Cataract, Anterior lenticonus, Keratitis, Stage 5 chronic ki... ORPHA:1018
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Warburg-Cinotti Syndrome
Low-set ears, Symblepharon, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atres... OMIM:618175
Chediak-Higashi Syndrome
Iris hypopigmentation, Periodontitis, Hemophagocytosis, Bruising susceptibility, Ocular albinism,... OMIM:214500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Arima Syndrome
Optic atrophy, Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria,... OMIM:243910
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Cogan Syndrome
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Leukocytosis, Episcleritis,... ORPHA:1467
Fabry Disease
Nephropathy, Cataract, Optic atrophy, Hearing impairment, Renal insufficiency, Sensorineural hear... ORPHA:324
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-positive he... ORPHA:101096
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... OMIM:313900
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti... OMIM:603165
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, He... ORPHA:77259
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Glomerular sclerosis, Orthostatic hypotension, Corneal ulceration, Ab... OMIM:223900
Lacrimoauriculodentodigital Syndrome
Low-set ears, Renal hypoplasia, Cupped ear, Conductive hearing impairment, Vesicoureteral reflux,... ORPHA:2363
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Abnormal erythrocyte morphology, Hematuria, Thrombocytosis, Autoimmun... ORPHA:324636
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Progressive sensor... ORPHA:575
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Stt3B-Cdg
Micropenis, Optic atrophy, Thrombocytopenia ORPHA:370924
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce... ORPHA:713
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly, Hearing impairment OMIM:614885
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Eosinophilia, Tubulointerstitial nep... ORPHA:183
Spondyloenchondrodysplasia
Chronic kidney disease, Granuloma, Pancytopenia, Autoimmune hemolytic anemia, Hematuria, Proteinu... ORPHA:1855
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Cornea... OMIM:166300
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, Calvarial osteos... OMIM:259700
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Abnormal co... ORPHA:411634
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Stickler Syndrome Type 2
Cataract, Corneal opacity, Sensorineural hearing impairment ORPHA:90654
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Low-set ears, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Agel Amyloidosis
Cataract, Hearing impairment, Cardiomyopathy, Bruising susceptibility, Stage 5 chronic kidney dis... ORPHA:85448
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Optic atrophy, Thrombocytopenia OMIM:615597
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Low-set ears, Optic atrophy, Hypoplasia of the iris... OMIM:251300
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Cataract, Sensorineural hearing impairment, Optic disc drusen OMIM:204000
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Leukopenia, 3-Methylg... OMIM:616271
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Hearing impairment, Eczematoid dermatitis, Congestive heart failure, Tricuspid regurgit... ORPHA:508542
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... OMIM:601775
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Lymphatic Filariasis
Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Abnormality ... ORPHA:2035
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Beta 2-m... ORPHA:91500
Felty Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Episcler... ORPHA:47612
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Ren... OMIM:232240
Propionic Acidemia
Hyperglycinuria, Eczematoid dermatitis, Cardiomyopathy, Increased level of hippuric acid in urine... OMIM:606054
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Galloway-Mowat Syndrome 3
Low-set ears, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerula... OMIM:617729
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney, Abnormality of visual evoked potentials ORPHA:3121
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Hematuria, Neutropenia, Corneal erosion, Abnormal penis mor... ORPHA:95455
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Bruising susceptibility, Splenomegaly, Skin rash, Sensorineural hearing impairm... ORPHA:540
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... ORPHA:449285
Congenital Syphilis
Pneumonia, Cataract, Optic atrophy, Keratitis, Hearing impairment, Extramedullary hematopoiesis, ... ORPHA:499009
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea ... ORPHA:231183
Relapsing Polychondritis
Sensorineural hearing impairment, Scleritis, Hematuria, Inflammatory abnormality of the eye, Purp... ORPHA:728
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Optic atrophy, Hearing impairment OMIM:616239
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Portal hypertension, ... ORPHA:98850
Reticular Dysgenesis
Hearing impairment, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Chronic otitis media ORPHA:33355
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Skin ... OMIM:616050
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Cinca Syndrome
Abnormality of thrombocytes, Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, S... ORPHA:1451
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Petechiae, Crusting erythematous dermat... OMIM:170100
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Chronic lymphatic leukemia, Proteinur... ORPHA:91139
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increase... OMIM:194380
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Leukopenia, P... ORPHA:99828
Noonan Syndrome 12
Atopic dermatitis, Lymphopenia, Supravalvular aortic stenosis, Thrombocytopenia OMIM:618624
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Mevalonic Aciduria
Low-set ears, Cataract, Nuclear cataract, Fluctuating splenomegaly, Morbilliform rash, Hepatosple... OMIM:610377
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Optic atrophy, Stag... ORPHA:416
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Sensorineural hearing impairment, Seborrheic dermatitis, Absent circulatin... OMIM:619693
Boutonneuse Fever
Vasculitis, Leukopenia, Renal insufficiency, Skin rash, Petechiae, Thrombocytopenia, Maculopapula... ORPHA:83313
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Holocarboxylase Synthetase Deficiency
Perioral eczema, Organic aciduria, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia ORPHA:79242
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Cerebellar hemorrhage, Thromb... OMIM:251000
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Abnormal bleeding, Leukocytosis, Anemia of inadequate productio... ORPHA:86839
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome, Iris hypopigmentation, Splenomegaly ORPHA:834
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chro... OMIM:614376
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Splenomegaly, Petechiae, Sensorineural hearing impairment, Anemia, Thro... ORPHA:294
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Corneal crystals, Glycosuria, Low-molecular-weight prot... OMIM:219800
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microcytic anemia, Splenomegaly, Thrombocytopenia, Membranoproliferative gl... OMIM:619525
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, Anemia ORPHA:77261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Hearing impairment, Reduced renal cor... OMIM:208085
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Pancytop... OMIM:600901
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinur... ORPHA:436271
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Pancytop... OMIM:227650
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pyuria ORPHA:536
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Leukodystrophy, Hypomyelinating, 24
Cataract, Decreased motor nerve conduction velocity, B lymphocytopenia OMIM:619851
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Hepatosplen... ORPHA:85450
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, ... ORPHA:309288
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid level, Elevat... OMIM:251100
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Renal insufficiency, Splenomegaly, Petechiae, Thrombocytopenia, Opacifica... OMIM:251290
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc... ORPHA:64743
Shigellosis
Pneumonia, Hypovolemic shock, Acute kidney injury, Microangiopathic hemolytic anemia, Ulcerative ... ORPHA:810
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... ORPHA:79403
Cinca Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... ORPHA:2686
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura OMIM:605432
Acquired Von Willebrand Syndrome
Normocytic anemia, Hematuria, Hypochromic anemia, Refractory anemia ORPHA:99147
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ... OMIM:235400
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, ... OMIM:239000
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent aphthous stomatitis, Autoimm... OMIM:301078
Congenital Toxoplasmosis
Anemia, Hearing impairment, Thrombocytopenia ORPHA:858
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic ... ORPHA:3240
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Abnormal bleeding, Decreased glomerular filtration rate, Neph... OMIM:232200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Sensorine... OMIM:162400
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chronic otitis media, Aminoaciduria, Cat... ORPHA:534
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Renal ... ORPHA:36234
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Congenital Enterovirus Infection
Hypotension, Abnormal bleeding, Hepatitis, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal mac... ORPHA:292
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Arrhythmia, Osteoarthritis, Anemia OMIM:606069
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve... ORPHA:90321
Giant Cell Arteritis
Optic atrophy, Abnormality of thrombocytes, Hearing impairment, Conductive hearing impairment, Re... ORPHA:397
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Hearing impairment, Renal tubular dysfunction, Abnor... ORPHA:99885
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Melas
Nephropathy, Focal segmental glomerulosclerosis, Optic atrophy, Proximal tubulopathy, Sensorineur... ORPHA:550
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia OMIM:619981
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Astigmatism, Chronic sinusitis, Telangiectasia, Thrombocyt... OMIM:606593
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... OMIM:615184
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Senso... OMIM:109120
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Renal hypoplasia, Microcornea, Band keratopathy, Lo... OMIM:118450
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon... ORPHA:261222
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... OMIM:614856
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonata... ORPHA:85212
Wilson Disease
Hepatitis, Kayser-Fleischer ring, Bruising susceptibility, Acute hepatitis, Splenomegaly, Thrombo... ORPHA:905
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Abnormal autonomic ne... ORPHA:83601
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... ORPHA:1782
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduc... ORPHA:812
Hyperoxaluria, Primary, Type I
Optic atrophy, Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary ... OMIM:259900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Sensorine... OMIM:220110
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Cranial ... OMIM:259710
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Conjunctival icterus, Glycosuria, Pancytopenia, Leuk... ORPHA:447
Severe Hemophilia A
Anemia, Macroscopic hematuria ORPHA:169802
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Optic atrophy, Large earlobe, Renal insufficiency, Proteinuria, Glomerulopathy, Macrotia ORPHA:2715
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Microcytic anemia, Pancreatitis, Reduced systolic function OMIM:618805
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomeru... ORPHA:33001
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Hypospadias, Hearing impairment, Large earlobe, Leukopenia, Vesicoureteral reflux, ... OMIM:301056
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Griscelli Syndrome
Iris hypopigmentation, Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neut... ORPHA:381
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
EEG abnormality, Thrombocytopenia, Sensorineural hearing impairment OMIM:616577
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Proteinuria, Arthritis, Acne ORPHA:69126
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Hearing impairment, EEG abnormality, Thrombocytopenia, Anemia OMIM:614946
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Lujo Hemorrhagic Fever
Oliguria, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Thrombocytopenia, Microscop... ORPHA:319213
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hemolytic anemia ORPHA:57
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Keratitis, Hearing impairme... OMIM:308205
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Skin rash, ... OMIM:277380
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Glycosuria, Renal tubular acidosis, P... OMIM:613404
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Hematuria, Thrombocytopenia, Anemia ORPHA:781
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Stage 5 chronic kidney disease, Decreased heart rate variability, Renal... OMIM:105120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Inflammation of the large intestine, Re... OMIM:617718
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory ... OMIM:614878
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility, Conductive hearing impairment, Hearing impairment OMIM:616229
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Sensorineural hearing impairment OMIM:619269
Donnai-Barrow Syndrome
Proteinuria, Iris coloboma, Posteriorly rotated ears, Sensorineural hearing impairment ORPHA:2143
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemo... ORPHA:529799
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemo... ORPHA:529808
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Rift Valley Fever
Anemia, Hematuria, Thrombocytopenia ORPHA:319251
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of the urethra, Dysuria, Renal insufficiency, Pancreatit... ORPHA:36426
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Sensorineural hearing ... OMIM:612541
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Hearing impairment, Subcapsular cataract ORPHA:414
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Sensorin... OMIM:268315
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Posteriorly rotated ears, Thrombocytopenia, Macrotia OMIM:619980
Noonan Syndrome 4
Low-set ears, Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Hydronephr... OMIM:610733
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, Ocular albinism, Abnorma... ORPHA:2720
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Lathosterolosis
Cataract, Microcornea, Hearing impairment, Horseshoe kidney, Abnormal platelet morphology, Thromb... ORPHA:46059
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Granulomatosis With Polyangiitis
Sensorineural hearing impairment, Hematuria, Arrhythmia, Prostatitis, Inflammatory abnormality of... ORPHA:900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otit... ORPHA:169090
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Avian Influenza
Pneumonia, Myelitis, Acute kidney injury, Hepatitis, Congestive heart failure, Lymphopenia, Leuko... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Stage 3 chronic kidney... OMIM:619743
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu... ORPHA:99901
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Renal insufficiency, Sensorineural hearing impairmen... OMIM:619147
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Macs Syndrome
Bronchiectasis, Bruising susceptibility, Recurrent aphthous stomatitis, Prolonged bleeding time, ... OMIM:613075
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Sideroblastic anemia, Pancytopenia, Punctate keratitis, Refractory sid... OMIM:557000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... OMIM:306900
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Lymphopenia, Leukopenia, Thrombocytope... ORPHA:319218
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Ta... ORPHA:99827
Holocarboxylase Synthetase Deficiency
3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, T... OMIM:253270
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Hyperechogenic kidneys, Pancytope... OMIM:614576
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Microphallus, Leuko... OMIM:603467
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Pancytop... OMIM:227645
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Corneal ... ORPHA:213
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Tinnitus, Decr... ORPHA:358
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Abnormal bleeding, Purple urine, Hemolytic anemia, Leuk... ORPHA:79277
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia OMIM:267700
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Myositis, Sinusitis, Thrombocytopenia, Arthritis, Anemia, C... OMIM:617591
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Petechiae, Thrombocytopenia, Cerebral hemorrhage OMIM:617397
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Chédiak-Higashi Syndrome
Gingival bleeding, Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia... ORPHA:167
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis, Sensorineural hearing impairment OMIM:209010
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Adult-Onset Still Disease
Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneumonitis, Proteinuria, Anemia, ... ORPHA:829
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Thrombocytopenia, Anemia ORPHA:457077
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att... ORPHA:464343
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Decreased urine output, Renal tubular ... ORPHA:31826
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymos... ORPHA:464329
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... OMIM:230800
Alg8-Cdg
Low-set ears, Cataract, Optic atrophy, Thrombocytopenia, Anemia ORPHA:79325
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dicarboxylic aciduria OMIM:611126
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Neutropenia, Thromboc... ORPHA:158061
Immunoglobulin A Vasculitis
Optic atrophy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:761
Pediatric-Onset Graves Disease
Keratitis, Sinus tachycardia, Congestive heart failure, Palpitations, Episcleritis, Splenomegaly,... ORPHA:525731
Galactokinase Deficiency
Cataract, Nuclear cataract, Hepatosplenomegaly, Sensorineural hearing impairment, Increased level... ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, P... OMIM:603553
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Urethr... OMIM:613990
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Thrombo... OMIM:618048
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Hearing impairment, Thrombocytopenia, Ventricular arrhythmia, Overfolded h... OMIM:620475
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Sensorineural... OMIM:612674
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Dysuria, Renal insufficiency, Pancreatit... ORPHA:537
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ac... OMIM:604278
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Urethral stricture, Thrombocytopenia, Neutropenia OMIM:613989
Donnai-Barrow Syndrome
Low-set ears, Cataract, Hearing impairment, Hypoplasia of the iris, Sensorineural hearing impairm... OMIM:222448
Congenital Factor V Deficiency
Hematuria ORPHA:326
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals OMIM:219900
Peroxisome Biogenesis Disorder 10B
Low-set ears, Cataract, Nephrocalcinosis, Neurogenic bladder, Posteriorly rotated ears OMIM:617370
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Giant platelets, Conductive hearing impairment, Renal insufficiency, Hydronephrosis... OMIM:611209
Wagro Syndrome
Low-set ears, Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity, Hypertension OMIM:612469
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Tricusp... ORPHA:505248
Bcard Syndrome
Low-set ears, Cataract, Bruising susceptibility, Arterial rupture, Sensorineural hearing impairme... OMIM:612394
Bone Marrow Failure Syndrome 3
Aplastic anemia, Cupped ear, Hearing impairment, Persistence of hemoglobin F, Increased mean corp... OMIM:617052
Neuroblastoma
Elevated urinary homovanillic acid, Abnormal bleeding, Elevated urinary vanillylmandelic acid, El... ORPHA:635
Sepsis In Premature Infants
Hypotension, Oliguria, Abnormal bleeding, Leukocytosis, Splenomegaly, Petechiae, Reversible renal... ORPHA:90051
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Splenomegaly, Abnormality of peripheral nerve conduction, Sensorineural ... ORPHA:585
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Tach... ORPHA:99826
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Iris coloboma, Cataract, Unilateral renal agenesis, Renal hypoplasia, Recurrent oti... OMIM:620654
Gaucher Disease
Splenic infarction, Hearing impairment, Pancytopenia, Leukopenia, Splenomegaly, Hematuria, Protei... ORPHA:355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Urinary retention, Pul... ORPHA:79124
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Astigmatism, Mitra... ORPHA:261250
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Moderate albuminuria, Hypsarrhythmia, EEG with burst suppression OMIM:614231
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Purpura,... ORPHA:1304
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocytic intersti... ORPHA:289390
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... ORPHA:137596
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... ORPHA:124
Adams-Oliver Syndrome
Cataract, Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Pulmonary arterial hypert... ORPHA:974
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia OMIM:251900
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Mirage Syndrome
Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Petechiae... OMIM:617053
Cocaine Intoxication
Acute kidney injury, Mydriasis, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial ne... ORPHA:90068
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia,... OMIM:260400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Cataract, Renal hypoplasia, Pancytopenia, Renal insufficiency, Sensorineural hearin... ORPHA:85321
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reti... ORPHA:90038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Chronic Mucocutaneous Candidiasis
Hematuria, Recurrent urinary tract infections ORPHA:1334
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Rheumatoid arthritis, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Arthritis,... ORPHA:85410
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Cerebral hemorrha... ORPHA:464321
Deafness, Unilateral
Unilateral deafness OMIM:125000
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Cerebral hemorrhage, Hepatosplenomegaly, Osteomyelitis, Optic neuritis, Neutropenia, ... OMIM:301081
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Low-set ears, Thrombocytopenia, Neonatal death OMIM:608104
Pierson Syndrome
Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger ... OMIM:609049
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Abnormal bleeding, Hemophagocytosis, Oroticaci... ORPHA:470
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Renal insuffi... ORPHA:1307
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Hearing impairment, Renal cyst, Seborrheic dermatit... ORPHA:488618
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Eczematoid dermatiti... ORPHA:391487
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Blau Syndrome
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Eczematoid dermatitis, Abnormal cr... OMIM:186580
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn... OMIM:222700
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
3-Methylglutaconic Aciduria Type 7
Cataract, Nephrocalcinosis, Infection associated neutropenia, Renal insufficiency, 3-Methylglutac... ORPHA:445038
Good Syndrome
Anemia, Recurrent urinary tract infections, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Fanconi Anemia, Complementation Group D2
Low-set ears, Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Hearing ... OMIM:227646
Intermediate Uveitis
Vasculitis, Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Psoriasiform... ORPHA:279914
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Undetectable visual evoked potentials, Stillbirth, Extramedullary hemat... OMIM:259720
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Chronic oral cand... OMIM:615758
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Thrombocyt... ORPHA:3320
Renal Hypodysplasia/Aplasia 1
Proteinuria, Low-set ears, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Moderate Hemophilia A
Hematuria ORPHA:169805
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Urinary incontinence, Pulmonary embolism, Acute kidney injury, ... ORPHA:94093
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Galloway-Mowat Syndrome
Nephropathy, Hypoplasia of the ear cartilage, Proteinuria, EEG abnormality, Nephrotic syndrome, M... ORPHA:2065
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Renal insufficiency, Pustule, Eosinop... ORPHA:293173
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Prolonged bleeding following procedure, Tubul... ORPHA:79259
Martin-Probst Syndrome
Low-set ears, Pancytopenia, Renal insufficiency, Sensorineural hearing impairment, Proteinuria, C... OMIM:300519
Antiphospholipid Syndrome, Familial
Scleritis, Autoimmune thrombocytopenia, Keratitis, Iritis OMIM:107320
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia, Myoglobinuria OMIM:255125
Shwachman-Diamond Syndrome
Normocytic anemia, Pneumonia, Aplastic anemia, Hearing impairment, Increased mean corpuscular vol... ORPHA:811
Wilson Disease
Aminoaciduria, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Decreased nerve conduction ... OMIM:277900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage,... OMIM:193235
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Sensorineural hearing impairment, P... ORPHA:488627
Fanconi Anemia, Complementation Group B
Low-set ears, Aplastic anemia, Renal agenesis, Thrombocytopenia, Micropenis, Overfolded helix OMIM:300514
Cornelia De Lange Syndrome 1
Low-set ears, Optic atrophy, Renal hypoplasia, Microcornea, Conductive hearing impairment, Optic ... OMIM:122470
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn... ORPHA:1806
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Transaldolase Deficiency
Low-set ears, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangiectasia, Thrombocytopenia, A... OMIM:606003
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocy... ORPHA:79430
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Down Syndrome
Neutrophilia, Keratoconus, Cataract, Conductive hearing impairment, Polycythemia, Acute megakaryo... ORPHA:870
Leptospirosis
Hypotension, Uveitis, Acute kidney injury, Hepatitis, Pulmonary hemorrhage, Skin rash, Conjunctiv... ORPHA:509
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... OMIM:131300
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Decrease... OMIM:133540
Proximal Myotonic Myopathy
Cataract ORPHA:606
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Hyphema, Myeloproliferative disorder, Blepharitis, Iritis ORPHA:158000
Overlap Myositis
Rheumatoid arthritis, Leukopenia, Pulmonary arterial hypertension, Raynaud phenomenon, Thrombocyt... ORPHA:206572
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Noonan Syndrome 9
Prolonged prothrombin time, Hydroureter, Prominent corneal nerve fibers, Pulmonic stenosis OMIM:616559
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Leukopenia, Leukocytos... ORPHA:20
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Folliculitis, Keratitis, Conjunctivitis, Blepharitis OMIM:612843
Osteootohepatoenteric Syndrome
Anemia, Proteinuria, Grade II vesicoureteral reflux, Hearing impairment OMIM:619377
Lymphangioleiomyomatosis
Optic atrophy, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Ren... ORPHA:538
Yellow Fever
Neutrophilia, Acute kidney injury, Abnormal bleeding, Anuria, Shock, Reduced left ventricular eje... ORPHA:99829
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding, Hearing... ORPHA:33226
Takenouchi-Kosaki Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Sensorineural hearing impairment, Hydrone... OMIM:616737
Pearson Syndrome
Cataract, Hearing impairment, Cardiomyopathy, Glycosuria, Pancytopenia, Renal insufficiency, Card... ORPHA:699
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... ORPHA:209959
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Peritonitis, Neutropenia, Bradycardia, Thrombocytopenia ORPHA:391673
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Splenomegaly, Enteroviral encephalitis, Sclerosing cholangitis, Thr... OMIM:308230
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Familial Mediterranean Fever
Nephropathy, Vasculitis, Nephrocalcinosis, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orc... ORPHA:342
Postinfectious Vasculitis
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis, Abnormality... ORPHA:48435
Ogden Syndrome
Low-set ears, Polycythemia, Recurrent otitis media, Protruding ear, Global glomerulosclerosis, Ir... OMIM:300855
Porphyria, Congenital Erythropoietic
Corneal scarring, Splenomegaly, Red urine, Pink urine, Thrombocytopenia, Reduced erythrocyte urop... OMIM:263700
Kawasaki Disease
Vasculitis, Hepatitis, Sterile pyuria, Congestive heart failure, Leukocytosis, Skin rash, Cholecy... ORPHA:2331
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Ifap Syndrome 2
Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca OMIM:619016
Caroli Syndrome
Conjunctival icterus, Abnormal bleeding, Hypersplenism, Leukopenia, Portal hypertension, Leukocyt... ORPHA:480520
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Proteinuria, Renal cyst, Prolonged prothrombin time, Thromb... OMIM:212065
Dyskeratosis Congenita
Cataract, Periodontitis, Hearing impairment, Splenomegaly, Displacement of the urethral meatus, T... ORPHA:1775
Aicardi-Goutieres Syndrome 1
Vasculitis, Cardiomyopathy, Chilblains, Splenomegaly, Petechiae, Thrombocytopenia, Purpura OMIM:225750
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Hyposegmentation of neutrophil nuclei ORPHA:250999
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur... OMIM:310600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Thrombocytopenia, Cardiomyopathy OMIM:617710
Atelis Syndrome 2
Low-set ears, Protruding ear, Vitreous hemorrhage, Developmental cataract, Thrombocytopenia, Anem... OMIM:620185
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s... OMIM:617321
Recon Progeroid Syndrome
Attached earlobe, Keratoconjunctivitis sicca, Thrombocytopenia, Anemia, Microtia OMIM:620370
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Renal cyst, Dark urine, Extramedullary hematopoiesis ORPHA:79303
Cockayne Syndrome A
Cataract, Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... OMIM:216400
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Granulomato... OMIM:608710
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Glycosuria, Low-molecular-weight pro... ORPHA:411629
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Proteinuria OMIM:619127
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Hearing impairment, Recurrent otitis media, Proteinuria, Heart murm... ORPHA:2728
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Hypospadias, Cupped ear, Hearing impairment, Otitis media, Juvenile cataract, Hematuria... OMIM:619475
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Ohdo Syndrome
Proteinuria, Hearing impairment, Microtia OMIM:249620
Glycogen Storage Disease Xii
Normocytic anemia, Splenomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activit... OMIM:611881
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma OMIM:216820
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Hematochezia, Pneumonia, Atopic dermatitis, Hepatitis, Hypertroph... OMIM:615846
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Nephrocalcinosis, Chronic mucocutaneous candidiasis, Tympanoscleros... OMIM:240300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Papilledema, Thrombocytopenia, Bradyca... OMIM:618775
Ivic Syndrome
Arrhythmia, Leukocytosis, Hearing impairment, Thrombocytopenia ORPHA:2307
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... ORPHA:89936
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Optic atrophy, Conductive hearing i... ORPHA:2785
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Ket... ORPHA:79282
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Xfe Progeroid Syndrome
Optic atrophy, Hearing impairment, Corneal scarring, Renal insufficiency, Proteinuria, Hypertension OMIM:610965
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... ORPHA:51636
Dubowitz Syndrome
Cataract, Hearing impairment, Eczematoid dermatitis, Low-set, posteriorly rotated ears, Abnormal ... ORPHA:235
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Low-set ears, Hyposegmentation of neutrophil nuclei, Sensorineural hearing impairment OMIM:620075
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Adult Krabbe Disease
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Farber Disease
Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Arthritis, Opacification of the co... ORPHA:333
Blau Syndrome
Posterior uveitis, Cataract, Nephropathy, Keratitis, Large vessel vasculitis, Stage 5 chronic kid... ORPHA:90340
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Elevated circulating creatine kin... ORPHA:800
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary retention, Aspiration pneumonia, Autonomic bladder d... ORPHA:99027
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Myoglobinuria... OMIM:620300
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79444
Classical Ehlers-Danlos Syndrome
Abnormal cornea morphology, Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abno... ORPHA:287
Dyskeratosis Congenita, X-Linked
Cataract, Optic atrophy, Pterygium, Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Acute m... OMIM:305000
Generalized Pustular Psoriasis
Congestive heart failure, Lymphopenia, Leukocytosis, Renal insufficiency, Palmoplantar pustulosis... ORPHA:247353
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Abnormal bleeding, Purple urine, Erythroid hyperplasia,... ORPHA:95159
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Cockayne Syndrome
Lentiglobus, Urinary incontinence, Nephrotic syndrome, Optic disc pallor, Corneal ulceration, Cat... ORPHA:191
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Sensorineural hearing impairment, Hypsarrhythmia, EEG abnormal... ORPHA:457351
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol... OMIM:251260
Sarcoidosis
Arrhythmia, Erythema nodosum, Tubulointerstitial nephritis, Heart block, Cataract, Renal insuffic... ORPHA:797
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Acute kidney injury, Septic arthritis, Brain abscess, Anuria, Oli... ORPHA:544482
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Raine Syndrome
Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste... OMIM:259775
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Desmosterolosis
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Generalized osteos... OMIM:602398
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Aymé-Gripp Syndrome
Low-set ears, Cataract, Megalocornea, Sensorineural hearing impairment, Proteinuria, EEG abnormal... ORPHA:1272
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Keratoconjunctivitis, I... OMIM:269200
Liver Failure, Infantile, Transient
Lacticaciduria, 3-hydroxydicarboxylic aciduria, Prolonged prothrombin time, Dicarboxylic aciduria OMIM:613070
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Pancytopenia, Phimosis, Hematuria, Recurrent corneal erosions, Kera... ORPHA:99921
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone ORPHA:2905
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Chronic Granulomatous Disease
Eczematoid dermatitis, Splenomegaly, Otitis media, Sinusitis, Inflammatory abnormality of the eye... ORPHA:379
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal hemorrhage, ... ORPHA:117
Tangier Disease
Hepatosplenomegaly, Facial diplegia, Thrombocytopenia, Corneal opacity, Anemia ORPHA:31150
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Cataract, Severe B lymphocytopenia, Accessory spleen, Renal hypoplasia, Lymphopenia... OMIM:620005
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Splenomegaly, Thrombocytopenia OMIM:251880
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Leukocytosis, Splenomegaly, ... ORPHA:32960
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Penoscrotal hypospadias, Micropenis, Patent urachus, E... OMIM:618280
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell co... OMIM:620376
Bardet-Biedl Syndrome 20
Astigmatism, Proteinuria, Papilledema, Pancreatitis, Micropenis OMIM:619471
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Thrombocytopenia-Absent Radius Syndrome
Cataract, Dilatation of the renal pelvis, Prolonged bleeding following circumcision, Horseshoe ki... OMIM:274000
Diamond-Blackfan Anemia 21
Low-set ears, Aortic regurgitation, Protruding ear, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Sensorineural hearing ... OMIM:616878
Gaucher Disease, Perinatal Lethal
Low-set ears, Hepatosplenomegaly, Splenomegaly, Neonatal death, Thrombocytopenia, Anemia, Microtia OMIM:608013
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Alg12-Cdg
Recurrent pneumonia, Sensorineural hearing impairment, Chronic rhinitis, Micropenis, Thrombocytop... ORPHA:79324
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa... ORPHA:263479
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, Decreased hemoglobin concentration, Thrombocytopenia, EEG abnormality OMIM:619005
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Fanconi Anemia
Cataract, Abnormality of the urinary system, Hydroureter, Hearing impairment, Recurrent urinary t... ORPHA:84
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Splenomegaly, Myoglobinuria, Abnormal erythrocyte enzyme concentration or... ORPHA:264580
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Myoglobinuria, Renal tubular acidosis, Splenomegaly ORPHA:79240
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, ... OMIM:212750
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... ORPHA:79098
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Tick-Borne Encephalitis
Myelitis, Hearing impairment, Leukopenia, Leukocytosis, Abnormal cranial nerve morphology, Abnorm... ORPHA:297
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomega... ORPHA:731
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis ORPHA:60025
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Leukopenia, Proteinuria, Thrombocytopenia ORPHA:2298
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E... OMIM:201475
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly... ORPHA:2072
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... ORPHA:171929
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Hearing impairment, Bilateral vestibular schwannoma, Ve... OMIM:101000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Myoglobinuria, Prolon... ORPHA:71212
Jacobsen Syndrome
Low-set ears, Hypospadias, Microcornea, Optic atrophy, Thrombocytopenia, Iris coloboma OMIM:147791
Fibular Hemimelia
Abnormal anterior chamber morphology, Renal dysplasia, Thrombocytopenia ORPHA:93323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Optic atrophy, Hearing impairment, Low-set, posteriorly rotated ears, ... ORPHA:487796
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cataract, Gastrointestinal hemorrhage, Ketonuria, Abnormal bleeding, Increased urinary glycerol, ... ORPHA:247598
Sialuria
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Hypermethioninemia Due To Adenosine Kinase Deficiency
Multifocal epileptiform discharges, Prolonged prothrombin time, Pulmonic stenosis, Sensorineural ... OMIM:614300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Intestinal bleeding, Thrombocytopenia, Anemia, Gastrointestinal telangiectasia, Re... OMIM:612199
Hereditary Hemorrhagic Telangiectasia
Anemia, Hematuria, Conjunctival telangiectasia, Nephrolithiasis ORPHA:774
Parkes Weber Syndrome
Cerebral arteriovenous malformation, Myelopathy ORPHA:90307
Jacobsen Syndrome
Aplasia/Hypoplasia of the earlobes, Aortic valve stenosis, Cataract, Microcornea, Multicystic kid... ORPHA:2308
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Recurrent otitis media, Thrombocytopenia, Anemia, Microtia ORPHA:261323
Oculoauricular Syndrome
Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Post... OMIM:612109
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
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
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Posteriorly rotated ears, Micropenis, Thrombocytopenia, Anemia, Hypospadias, Micr... ORPHA:163979
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... ORPHA:91495
Kikuchi-Fujimoto Disease
Vasculitis, Leukopenia, Malar rash, Splenomegaly, Skin rash, Pustule, Anemia, Lymphocytosis, Neut... ORPHA:50918
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Proteinuria, Panniculiti... ORPHA:79086
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Hypocalcemic seizures, Osteopetrosis OMIM:612301
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Cataract ORPHA:401973
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Leukopenia, Splenomegaly, Sensorine... OMIM:300972
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:614800
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Recurrent otitis media, Microcytic anemia, Parotitis, Punctate opacific... OMIM:256040
Roberts Syndrome
Cataract, Long penis, Thrombocytopenia, Absent earlobe, Polycystic kidney dysplasia, Abnormal pin... ORPHA:3103
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Thrombocytopenia, Cardiomyopathy ORPHA:572798
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Ivic Syndrome
Leukocytosis, Hearing impairment, Thrombocytopenia OMIM:147750
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Bruising susceptibility, ... ORPHA:90062
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Deeah Syndrome
Low-set ears, Hearing impairment, EEG abnormality, Thrombocytopenia, Micropenis, Decreased hemogl... OMIM:619004
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:367
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Mild hearing impairment, Recurrent urinary tract infectio... OMIM:301068
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Recurrent otitis media, Hydronep... OMIM:614921
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Scalp-Ear-Nipple Syndrome
Cataract, Duplication of renal pelvis, Recurrent urinary tract infections, Underdeveloped tragus,... ORPHA:2036
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Sensorineural hearing im... OMIM:618329
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia, Macrotia, Pollak... ORPHA:647
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst OMIM:208500
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Lymphopenia, Dec... OMIM:619573
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Facial palsy ORPHA:206549
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Anterior uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, ... ORPHA:85436
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hypsarrhythmia, Thrombocytopenia OMIM:620423
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hearing impairment, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia OMIM:301072
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Aicardi-Goutières Syndrome
Low-set ears, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomega... ORPHA:51
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Corneal scarring, Stage 5 chronic kidney disease... OMIM:309000
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Acanthocytosis, Reticulocytosis, Keratoconjunctiviti... ORPHA:14
Holoprosencephaly
Optic atrophy, Abnormality of the urinary system, Abnormality of the spleen, Abnormal antihelix m... ORPHA:2162
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Myoglobinuria, Congestive heart failure OMIM:609015
Monosomy 13Q34
Hematochezia, Epistaxis, Abnormal earlobe morphology, Fetal pyelectasis, Prolonged prothrombin ti... ORPHA:96168
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Abnormal bleeding, Sinus tachycardia, Acute kidney injury, ... ORPHA:466650
Digeorge Syndrome
Low-set ears, Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Renal insuf... OMIM:188400
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Williams Syndrome
Megalocornea, Mitral regurgitation, Sensorineural hearing impairment, Posterior embryotoxon, Flat... ORPHA:904
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Myositis, Keratoconjunctivitis sicca, Thrombocytopenia, Tubulointerstiti... ORPHA:79078
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Hepatitis, Congestive heart failure, Hepatosplenomegaly... ORPHA:171
Osteogenesis Imperfecta
Aortic regurgitation, Hearing impairment, Bruising susceptibility, Progressive hearing impairment... ORPHA:666
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Capillary Malformation-Arteriovenous Malformation
Cerebral arteriovenous malformation ORPHA:137667
Isolated Biliary Atresia
Dark yellow urine, Splenomegaly, Prolonged prothrombin time ORPHA:30391
Retinoblastoma
Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Heterochromia iridis, Leukocoria, Vi... ORPHA:790
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Hearing impairment, Renal insufficiency, Proteinuria, Hydronephrosi... ORPHA:2750
Liver Disease, Severe Congenital
Pneumonia, Aminoaciduria, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent ot... OMIM:619991
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur... ORPHA:423
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Orofaciodigital Syndrome I
Proteinuria, Low-set ears, Polycystic kidney dysplasia, Hearing impairment OMIM:311200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Prolonged prothrombin time ORPHA:309854
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Noonan Syndrome 1
Low-set ears, Abnormal bleeding, Hearing impairment, Juvenile myelomonocytic leukemia, Bruising s... OMIM:163950
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, A... ORPHA:77293
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Prolonged prothrombin time OMIM:311250
Trichorhinophalangeal Syndrome, Type Ii
Cerebral arteriovenous malformation, Growth delay, Mild postnatal growth retardation OMIM:150230
Phace Syndrome
Cerebral arteriovenous malformation ORPHA:42775
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation OMIM:175050
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones OMIM:269150
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:618019
Juvenile Polyposis Syndrome
Cerebral arteriovenous malformation, Growth delay ORPHA:2929
Pmm2-Cdg
Cataract, Aspiration pneumonia, Hypertrophic cardiomyopathy, Proteinuria, Angina pectoris, Impair... 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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