Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Herc1 MGI:2384589

Gene Summary

Name:

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

Synonyms:

tbl, 2810449H11Rik, D130015N03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased circulating glucose level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.64×10^-07
increased circulating sodium level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	6.14×10^-14
impaired glucose tolerance	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.59×10^-06
abnormal retina morphology	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.45×10^-06
decreased lean body mass	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.87×10^-12
increased circulating alkaline phosphatase level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.87×10^-06
increased circulating chloride level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.11×10^-19
decreased bone mineral density	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	8.14×10^-10
increased red blood cell distribution width	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	5.02×10^-10
male infertility	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
increased total body fat amount	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.33×10^-15
increased fasting circulating glucose level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.63×10^-05
increased eosinophil cell number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
increased circulating insulin level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
increased mean platelet volume	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.51×10^-09
abnormal auditory brainstem response	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.31×10^-06
abnormal lens morphology	Herc1^{em2(IMPC)Wtsi}	HOM	Early adult	9.78×10^-08
increased Ly6C high monocyte number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
increased circulating amylase level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.54×10^-13
increased Ly6C low monocyte number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
cataract	Herc1^{em2(IMPC)Wtsi}	HOM	Early adult	9.78×10^-08
decreased bone mineral content	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.80×10^-12
increased leukocyte cell number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.35×10^-06
increased monocyte cell number	Herc1^{em3(IMPC)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

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

DSS Histology

Images

16 Images

View images

X-ray

XRay Images Forepaw

41 Images

View images

Eye Morphology

Images Ophthalmoscopy

21 Images

View images

X-ray

XRay Images Skull Lateral Orientation

42 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

40 Images

View images

Anti-nuclear antibody assay

Images

10 Images

View images

Eye Morphology

Images Slit Lamp

6 Images

View images

Ear epidermis immunophenotyping

Images

36 Images

View images

Legacy Phenotype Associated Images

Herc1^{em1(IMPC)Wtsi}
HOM, Female, WTSI

Herc1^{em3(IMPC)Wtsi}
WT, Female, WTSI

View all 242 images

Herc1^{em3(IMPC)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Herc1^{em2(IMPC)Wtsi}
cataract, HOM, Male, WTSI

Herc1^{em3(IMPC)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

View all 27 images

Herc1^{em3(IMPC)Wtsi}
WT, Male, WTSI

Herc1^{em3(IMPC)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Herc1^{em3(IMPC)Wtsi}
HOM, Male, WTSI

View all 14 images

Herc1^{em2(IMPC)Wtsi}
abnormal tail morphology, short tail, HOM, Male, WTSI

Herc1^{em2(IMPC)Wtsi}
hindlimb, polydactyly, polysyndactyly, HOM, Male, WTSI

Herc1^{em3(IMPC)Wtsi}
polydactyly, polysyndactyly, abnormal digit morphology, WT, Female, WTSI

Herc1^{em3(IMPC)Wtsi}
tail, HOM, Male, WTSI

View all 13 images

Human diseases caused by Herc1 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.

Human diseases associated with Herc1 (2 diseases)
Human diseases predicted to be associated with Herc1 (772 diseases)

The table below shows human diseases associated to Herc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome		Limitation of joint mobility, Low-set, posteriorly rotated ears, Slender build, Large for gestati...	ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation		Cerebral cortical atrophy, Cerebellar atrophy, Tall stature, Gait ataxia, Disproportionate tall s...	OMIM:617011

The table below shows human diseases predicted to be associated to Herc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 7	Developmental cataract	OMIM:115660
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Nathalie Syndrome	Cataract	ORPHA:2663
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
X-Linked Retinoschisis	Cataract	ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract 47	Cataract, Microcornea	OMIM:612018
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormality of the au...	ORPHA:79299
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Galactosemia Ii	Cataract	OMIM:230200
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Galactosemia Iv	Cataract	OMIM:618881
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Dysmetria, P...	ORPHA:284332
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine...	OMIM:155100
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Cinca Syndrome	Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Progressive sensorineural hearing impairment, Enamel hypomineralization, Iron deficiency anemia, ...	ORPHA:494444
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Spinocerebellar Ataxia 40	Broad-based gait, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dysmetria, Tremor, Atax...	OMIM:616053
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta...	ORPHA:324575
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Gait d...	OMIM:614860
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Late-Onset Isolated Acth Deficiency	Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Graves disea...	ORPHA:199299
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529799
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu...	ORPHA:280356
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Ataxia, Sensory, 1, Autosomal Dominant	Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Gait disturbance...	OMIM:608984
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Facial palsy, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:253600
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Nathalie Syndrome	Cataract	OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Spinocerebellar Ataxia Type 40	Broad-based gait, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dysmetria, Unsteady gai...	ORPHA:423275
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Monocytosis	OMIM:615592
Myh9-Related Disease	Giant platelets, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutrophil inclus...	ORPHA:182050
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr...	ORPHA:486
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, EEG with burst suppression, Hyperglycinemia, Hypsarrhythmia, Thrombo...	OMIM:620423
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ...	OMIM:616033
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto...	OMIM:619644
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Thrombocytosis, Leukocytosis, Hypocalcemia, Hyperuricemia, Ele...	ORPHA:94093
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276575
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Hyperinsulinism-Hyperammonemia Syndrome	EEG with generalized epileptiform discharges, Asymptomatic hyperammonemia, Fasting hyperinsulinem...	ORPHA:35878
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili...	OMIM:304790
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 88	Eosinophilia	OMIM:619630
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Recurrent otitis media, Hyposegmentation of...	OMIM:169400
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi...	OMIM:606762
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein...	ORPHA:2070
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Sensori...	ORPHA:79237
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic ner...	ORPHA:83601
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac...	OMIM:619489
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Roifman Syndrome	Recurrent otitis media, Hepatosplenomegaly, Hip contracture, Hypogonadotropic hypogonadism, Eosin...	ORPHA:353298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231226
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Homozygous 11P15-P14 Deletion Syndrome	Congenital sensorineural hearing impairment, Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Craniosynostosis, Eosinophilia, Joint contracture of the hand	OMIM:618523
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Bleeding Disorder, Platelet-Type, 21	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor...	OMIM:617443
Mirage Syndrome	Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Adrenal insufficiency, Decreased body we...	OMIM:617053
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype...	ORPHA:3008
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for...	ORPHA:276556
Addison Disease	Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Hyperkal...	ORPHA:85138
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei...	ORPHA:1930
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi...	ORPHA:71526
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormality of retinal pigmentatio...	ORPHA:3085
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Bone cyst...	ORPHA:528
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir...	ORPHA:1667
Aniridia 3	Cataract, Aniridia	OMIM:617142
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Hypothyr...	OMIM:615952
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Alg8-Cdg	Low-set ears, Optic atrophy, Failure to thrive, Abnormality of subcutaneous fat tissue, Retinopat...	ORPHA:79325
Necrotizing Enterocolitis	Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro...	ORPHA:391673
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Hearing impairment, Umbilical hernia, Thrombocytopenia, Overfolded helix, ...	OMIM:620475
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Osteoporosis, Eosinophilia	OMIM:620532
Hemochromatosis, Type 4	Impotence, Increased circulating ferritin concentration, Glucose intolerance, Osteoarthritis, Ane...	OMIM:606069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Recurrent otitis media, Osteomy...	OMIM:619381
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Roifman Syndrome	Recurrent otitis media, Splenomegaly, Hip contracture, Eosinophilia, Retinal dystrophy	OMIM:616651
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating...	ORPHA:95409
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Omenn Syndrome	Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Hypo...	ORPHA:39041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hyperkalemia, Fa...	ORPHA:90791
Adenohypophysitis	Increased circulating prolactin concentration, Sensorineural hearing impairment, Decreased serum ...	ORPHA:95512
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Failure to thrive, Hypernatremia	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	OMIM:125800
Sheehan Syndrome	Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Obesi...	ORPHA:91355
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer bodies, Eryth...	OMIM:301310
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia	OMIM:240200
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy...	OMIM:610947
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor...	ORPHA:95513
Wells Syndrome	Cellulitis, Eosinophilia	ORPHA:901
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy	ORPHA:79084
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intolerance, Obesit...	ORPHA:369873
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Hypernatremia, Reduced circulating growth hormone concentration	OMIM:615508
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Osteopenia, Giant platelets, Conductive hearing impairment, Failure to thrive in in...	OMIM:611209
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly,...	OMIM:612541
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Hearing impairment, Abnormal circulating porphyrin concentration, Hypo...	ORPHA:100924
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, R...	ORPHA:293978
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,...	OMIM:620565
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic...	OMIM:615926
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s...	OMIM:214700
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ...	OMIM:617872
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hypophosphatem...	ORPHA:263455
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Kimura Disease	Eosinophilia	ORPHA:482
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow ...	OMIM:248370
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy...	ORPHA:556037
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circula...	OMIM:617388
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva...	ORPHA:247353
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Cataract 48	Cataract	OMIM:618415
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis...	ORPHA:363400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy...	ORPHA:556030
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circulating prol...	ORPHA:95613
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Takenouchi-Kosaki Syndrome	Low-set ears, Optic atrophy, Inguinal hernia, Sensorineural hearing impairment, Thrombocytopenia,...	OMIM:616737
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear...	OMIM:617519
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia, Reduced C-peptide level, Flexion contrac...	OMIM:618856
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Conductiv...	ORPHA:443811
Trichohepatoenteric Syndrome 1	Low-set ears, Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fail...	OMIM:222470
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Sensorineural he...	ORPHA:79324
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Osteopenia, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Chron...	ORPHA:2314
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl...	OMIM:617885
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Recurrent otitis media, Osteomyelitis, Joint hypermobility, Eosinophilia, Ster...	OMIM:618282
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis	OMIM:604273
Shigellosis	Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Absc...	ORPHA:810
Whipple Disease	Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Arthritis, Anemia, Erec...	ORPHA:3452
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Optic atrophy, Hyponatremia, Hypoglycemia	OMIM:608688
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Congenital Isolated Acth Deficiency	Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol...	ORPHA:199296
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Nephrogenic Diabetes Insipidus	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	ORPHA:223
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Elevated circu...	OMIM:613327
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, Otitis medi...	ORPHA:169160
Congenital Varicella Syndrome	Cataract	ORPHA:291
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Cone/cone-rod dystrophy, Se...	OMIM:203800
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:177735
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Decreased fertility, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abno...	ORPHA:90794
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy...	OMIM:124900
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno...	ORPHA:231222
Estrogen Resistance	Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati...	OMIM:615363
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased adipose t...	OMIM:151660
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A...	ORPHA:289548
Lipodystrophy, Congenital Generalized, Type 2	Macrotia, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:269700
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F...	ORPHA:168558
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Immunodeficiency 23	Conductive hearing impairment, Failure to thrive, Lymphopenia, Abscess, Sensorineural hearing imp...	OMIM:615816
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight loss	ORPHA:449400
Cystic Echinococcosis	Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia, Weight loss, Bone cyst	ORPHA:400
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hearing impairment, Failure to thrive, Umbilical hernia, Hy...	ORPHA:99886
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of...	ORPHA:785
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased...	OMIM:203400
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia	OMIM:616176
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Osteomyelitis, Abnormal circulating aldosterone, Glucocortocoid-ins...	ORPHA:171876
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Abcd Syndrome	Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Polycythemia, Hearing impair...	OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Morm Syndrome	Cataract	ORPHA:75858
Renal Hypoplasia, Bilateral	Glycosuria, Failure to thrive, Hyponatremia, Anemia, Hyperkalemia, Small for gestational age	ORPHA:97362
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti...	ORPHA:79277
Combined Immunodeficiency Due To Zap70 Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h...	ORPHA:911
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Hypothyroidism, Thrombocyto...	ORPHA:84064
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Obesity	ORPHA:329249
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Perlman Syndrome	Low-set ears, Hyperinsulinemia, Inguinal hernia, Femoral hernia, Thickened helices, Posteriorly r...	ORPHA:2849
Aspergillosis	Osteomyelitis, Eosinophilia, Neutropenia, Vitritis	ORPHA:1163
Intellectual Developmental Disorder, Autosomal Dominant 70	Failure to thrive, Hearing impairment, Hyponatremia, Retinal detachment, Retinal telangiectasia, ...	OMIM:620157
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Hypothyroidism, Failure to thrive	OMIM:618999
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Increased circulating free fatty acid level, Decreased circulating carnit...	ORPHA:71212
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-...	OMIM:608600
Posttransplant Acute Limbic Encephalitis	EEG with abnormally slow frequencies, Hyponatremia, EEG with focal epileptiform discharges, Abnor...	ORPHA:163921
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Retinitis Pigmentosa	Optic atrophy, Conductive hearing impairment, Hypogonadism, Hyperinsulinemia, Attenuation of reti...	ORPHA:791
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Sensorineural hearing impairment, Hypoka...	OMIM:613090
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased c...	OMIM:618838
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Lipodystrophy, Congenital Generalized, Type 1	Macrotia, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Reduced subcu...	OMIM:608594
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus	ORPHA:178029
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Sensorineural hearing impairment	ORPHA:3225
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:264350
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A...	ORPHA:1215
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity	OMIM:620195
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, EEG with burst suppression, Abnormal circulating arginine concen...	ORPHA:79096
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Failure to t...	OMIM:601678
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:96253
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi...	OMIM:618278
Classic Galactosemia	Hypoglycemia, Premature ovarian insufficiency, Decreased fertility in females, Abnormal erythrocy...	ORPHA:79239
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Splenomegal...	OMIM:602450
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Weight loss, Hypophosphatemia, Male infertility, M...	OMIM:219800
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Salmonella osteomye...	OMIM:209950
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag...	ORPHA:274
Donohue Syndrome	Postprandial hyperglycemia, Low-set ears, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pa...	OMIM:246200
Porphyria Variegata	Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Abnormal autonomic nervous ...	ORPHA:79473
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Failure to thrive, Hearing impairment, Thrombocytopenia	ORPHA:67048
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Recurrent otitis media, ...	OMIM:243700
Cinca Syndrome	Abnormality of thrombocytes, Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, S...	ORPHA:1451
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E...	OMIM:617718
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Chondrocalcino...	OMIM:241200
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Hearing impairment, Low-set, posteriorly rotated ears, Inguinal hernia, Abnormalit...	ORPHA:487796
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Acquired Generalized Lipodystrophy	Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus...	ORPHA:79086
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hyperkalemic Periodic Paralysis	Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur...	ORPHA:682
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Cellulitis, Recurrent otitis media, Lymphop...	OMIM:618986
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me...	ORPHA:769
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl...	ORPHA:465508
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy...	OMIM:258900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Recurrent otitis media, Microcephalic sperm head, Redu...	OMIM:301101
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Hemochromatosis, Type 1	Increased circulating iron concentration, Impotence, Increased circulating ferritin concentration...	OMIM:235200
Bartter Syndrome Type 4	Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Increased circulating renin level, Protrud...	ORPHA:89938
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome...	OMIM:102700
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss, Thyroiditis	ORPHA:139402
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia, Male infertility, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Hyponatremia	ORPHA:549
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment	OMIM:608653
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen...	ORPHA:3240
Ravine Syndrome	Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight	ORPHA:99852
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Incontinentia Pigmenti	Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Eosinophili...	OMIM:308300
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Sensorineural hearing impairment, Arthritis, Elevated circulating C-r...	OMIM:611762
Alveolar Echinococcosis	Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Weight loss, Abnormal adrenal morpho...	ORPHA:284
Rabin-Pappas Syndrome	Conductive hearing impairment, Tracheomalacia, Failure to thrive in infancy, Obesity, Sensorineur...	OMIM:620155
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Propionic Acidemia	Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia,...	OMIM:606054
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Throm...	ORPHA:2686
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Delayed ossification of carpal bones	OMIM:617425
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
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
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Hartsfield Syndrome	Low-set ears, Gonadotropin deficiency, Craniosynostosis, Diabetes insipidus, Posteriorly rotated ...	OMIM:615465
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Stickler Syndrome, Type V	Cataract	OMIM:614284
Igg4-Related Pachymeningitis	Abnormality of cervical plexus, Abnormal optic nerve morphology, Abnormality of the brachial nerv...	ORPHA:449427
Incontinentia Pigmenti	Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Retinal vascular pr...	ORPHA:464
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral senso...	OMIM:611102
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Mpi-Cdg	Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive	ORPHA:79319
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg...	ORPHA:79474
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Hemolytic anemia, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Sept...	ORPHA:544482
Japanese Encephalitis	Decreased motor nerve conduction velocity, Stiff neck, EEG with burst suppression, Elbow flexion ...	ORPHA:79139
Netherton Syndrome	Hypereosinophilia, Failure to thrive	OMIM:256500
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ...	OMIM:300539
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairmen...	OMIM:520000
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Coccidioidomycosis	Atypical scarring of skin, Granuloma, Hearing impairment, Abnormality of the spleen, Osteomyeliti...	ORPHA:228123
Familial Hypoaldosteronism	Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, ...	ORPHA:427
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Combined Oxidative Phosphorylation Deficiency 40	Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased c...	OMIM:618835
Hereditary Coproporphyria	Hyponatremia, Long hairs growing from helix of pinna, Atypical scarring of skin, Abnormal circula...	ORPHA:79273
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari...	ORPHA:95619
Combined Oxidative Phosphorylation Deficiency 42	Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased c...	OMIM:618839
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Progressive hearing impairment, H...	OMIM:616113
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Holoprosencephaly	Optic atrophy, Hypoglycemia, Chorioretinal coloboma, Failure to thrive in infancy, Abnormality of...	ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Osteopenia, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Prader-Willi Syndrome	Precocious puberty, Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failu...	OMIM:176270
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Foot joint contracture, Hearing impairm...	ORPHA:90321
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi...	OMIM:619632
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Hypophosphatemia, Chorioretinal dysplasia, Chronic otitis media, Atypical scarring ...	ORPHA:534
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly,...	ORPHA:3260
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:619260
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Primar...	ORPHA:275761
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Leukocytosis, Hearing impairment, Arthritis	OMIM:120100
Atelis Syndrome 2	Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, P...	OMIM:620185
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Sensorineural hearing impairment, Hypoka...	OMIM:602522
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss, Arthritis	ORPHA:183
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ...	ORPHA:232
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Hypoglycemia	OMIM:618182
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreas...	ORPHA:3464
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Angiostrongyliasis	Stiff neck, Hypereosinophilia	ORPHA:74
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus	ORPHA:676
Achromatopsia 3	Cataract	OMIM:262300
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope...	OMIM:251110
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Elbow flexion contracture, Hypereosino...	ORPHA:508533
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:306000
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Sensorineural he...	OMIM:617575
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Elevated circula...	ORPHA:289157
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Low-set ears, Central hypothyroidism, Failure to ...	ORPHA:508
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Recurr...	OMIM:301000
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Progressive sensorineural hearing impairme...	OMIM:191900
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:99889
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra...	ORPHA:457077
Aggressive Systemic Mastocytosis	Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro...	ORPHA:98850
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Failure to thrive, Hypoglycemia, Splenomegaly, Elevated circulating creat...	ORPHA:264580
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, N...	OMIM:251000
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia	ORPHA:664
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Sarcoidosis	Diabetes insipidus, Leukopenia, Hypercalcemia, Bone cyst, Increased T cell count, Eosinophilia, W...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormal optic nerve morphology, Orchitis, Eosinophilia,...	ORPHA:449563
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia, Menorrhagia	OMIM:620484
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Elevat...	ORPHA:36238
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio...	ORPHA:300373
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Extramedullary hematopoiesis, Cranial hyper...	OMIM:259720
Liver Disease, Severe Congenital	Recurrent otitis media, Hyperbilirubinemia, Hypoproteinemia, Hypocalcemia, Inguinal hernia, Eleva...	OMIM:619991
Deafness-Infertility Syndrome	Azoospermia, Male infertility, Sensorineural hearing impairment	ORPHA:94064
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Sple...	OMIM:612840
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Hearing impairment	OMIM:158310
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concent...	OMIM:201750
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Familial Dysautonomia	Optic atrophy, Osteolysis, Hyponatremia, Orthostatic hypotension, Recurrent fractures	ORPHA:1764
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:618183
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac...	OMIM:187900
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus	OMIM:222100
Cockayne Syndrome A	Limitation of joint mobility, Reduced subcutaneous adipose tissue, Hip contracture, Sensorineural...	OMIM:216400
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Juvenile Nephropathic Cystinosis	Hypouricemia, Glycosuria, Failure to thrive, Elevated circulating creatinine concentration, Hypoc...	ORPHA:411634
Pancreatic And Cerebellar Agenesis	Low-set ears, Failure to thrive, Hypoglycemia, Hyperglycemia, Joint stiffness, Reduced subcutaneo...	OMIM:609069
Mevalonic Aciduria	Low-set ears, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosp...	OMIM:610377
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm...	OMIM:313900
Bardet-Biedl Syndrome 9	Irregular menstruation, Hyperglycemia, Obesity, Attenuation of retinal blood vessels, Retinal deg...	OMIM:615986
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cataract 49	Posterior cortical cataract	OMIM:619593
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys...	OMIM:617099
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abnormality of th...	ORPHA:906
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Fuse...	OMIM:274000
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocyt...	ORPHA:134
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Progressive hearing impairm...	ORPHA:514
Livedoid Vasculopathy	Graves disease, Polycythemia, Abnormal circulating lipid concentration, Atrophic scars, Pancytope...	ORPHA:542643
Aromatase Deficiency	Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Obesity, Eun...	ORPHA:91
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi...	ORPHA:449395
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, ...	OMIM:610505
Dend Syndrome	Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears, Hyperglycemia	ORPHA:79134
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Dia...	OMIM:616026
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract	OMIM:601794
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Optic atrophy, Recurrent otitis media, Lym...	OMIM:615688
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Non...	ORPHA:20
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Small for gestational...	OMIM:133540
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Male infertility, Reduced...	OMIM:619044
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Infant Botulism	Hyponatremia, Chronic otitis media	ORPHA:178478
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ...	OMIM:615954
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro...	ORPHA:292
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Hypoglycemia, Hypothyroidism, Joint contracture, Neutropenia	OMIM:618005
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re...	ORPHA:79330
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Splenomegaly, Hyperuricemia, Gout, Lipemia retinalis, Delayed puber...	OMIM:232220
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Oligoarthritis, Leukocytosis, Neutrophilia	OMIM:614204
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma...	OMIM:620103
Lymphatic Filariasis	Knee osteoarthritis, Hypereosinophilia, Orchitis	ORPHA:2035
Adult-Onset Still Disease	Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr...	ORPHA:829
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating...	OMIM:615962
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Small for ...	OMIM:618857
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi...	OMIM:616881
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Bloom Syndrome	Insulin resistance, Azoospermia, Abscess, Decreased proportion of CD4-positive T cells, Retinopat...	ORPHA:125
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Osteopenia, Thyroiditis, Hypoglycemic seizures, Failure to thrive, Hypogl...	ORPHA:79259
Cerebrotendinous Xanthomatosis	Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,...	ORPHA:909
Igg4-Related Submandibular Gland Disease	Eosinophilia, Prostatitis, Abnormality of the thyroid gland	ORPHA:449432
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Cutaneous abscess, Joint hypermobility, Eosinophilia, Recurrent cutaneous abscess for...	OMIM:147060
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell...	ORPHA:881
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Fanconi Anemia, Complementation Group A	Hearing impairment, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Neut...	OMIM:227650
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa...	ORPHA:206436
Pmm2-Cdg	Insulin resistance, Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating prolact...	ORPHA:79318
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Oligoarthritis, Elevated circul...	ORPHA:3243
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Coronal craniosynostosis, Poly...	ORPHA:2968
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Sickle Cell Disease	Splenic infarction, Priapism, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, R...	OMIM:603903
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Pancytopeni...	OMIM:613658
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Asplenia, Male infertility	OMIM:618948
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentr...	ORPHA:731
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Impotence, Decreased response to growth hormone stimulatio...	ORPHA:273
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Elevated circulating creatinine concentration, Hepatosplenomegaly, Weight loss, Dec...	ORPHA:85450
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, EEG abnormality	ORPHA:206448
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Ciliary Dyskinesia, Primary, 14	Polysplenia, Otitis media, Immotile sperm, Reduced sperm motility, Male infertility	OMIM:613807
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Elevated circulating C-rea...	ORPHA:1304
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl...	OMIM:609136
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, In...	OMIM:131100
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Viss Syndrome	Low-set ears, Cupped ear, Failure to thrive, Umbilical hernia, Hypereosinophilia, Inguinal hernia...	OMIM:619472
Tyrosinemia, Type I	Hypermethioninemia, Failure to thrive, Hypoglycemia, Hypophosphatemic rickets, Splenomegaly, Panc...	OMIM:276700
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Failure to thrive	OMIM:618252
Alström Syndrome	Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me...	ORPHA:64
Primary Ciliary Dyskinesia	Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Polysplenia, Female i...	ORPHA:244
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Failure to thrive	OMIM:618426
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Osteomyelitis, Leukocytosis, Rectal abscess	OMIM:116920
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer...	OMIM:615812
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Insulin insensitivity, Male sexual dysfunction, A...	ORPHA:90797
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Leukocytosis, Hypoplasia of the ovary, Abdominal obesity, Flexion contracture, Azo...	OMIM:619321
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E...	ORPHA:171929
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Gout, Hyperlipidemia, Hyperuricemia, Delayed puberty	OMIM:232240
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes...	ORPHA:261529
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Hypoglycemia, Ectopic anterior pituitary gland, Hypopitu...	ORPHA:90695
47,Xyy Syndrome	Low-set ears, Azoospermia, Congenital stationary night blindness, Increased serum testosterone le...	ORPHA:8
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac...	ORPHA:3337
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ...	ORPHA:401973
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f...	ORPHA:99429
Dermatomyositis	Cellulitis, Abnormal eosinophil morphology, Chondrocalcinosis, Elevated circulating creatine kina...	ORPHA:221
Ciliary Dyskinesia, Primary, 1	Asplenia, Conductive hearing impairment, Chronic otitis media, Male infertility	OMIM:244400
46,Xy Partial Gonadal Dysgenesis	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s...	ORPHA:251510
Noonan Syndrome 1	Low-set ears, Juvenile myelomonocytic leukemia, Hearing impairment, Failure to thrive in infancy,...	OMIM:163950
Cystic Fibrosis	Osteopenia, Decreased body mass index, Hearing impairment, Failure to thrive, Osteoporosis, Male ...	ORPHA:586
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Limitation of joint mobility, Low-set, posteriorly rotated ears, Slender build, Large for gestati...	ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Cerebellar atrophy, Tall stature, Gait ataxia, Disproportionate tall s...	OMIM:617011

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 Herc1

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 Herc1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
HERC1 deficiency causes osteopenia through transcriptional program dysregulation during bone remodeling.	Cell death & disease (January 2023)	Herc1^{em3(IMPC)Wtsi}	PMC9837143
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Herc1^{em1(IMPC)Wtsi} Herc1^{em2(IMPC)Wtsi} Herc1^{em3(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Herc1^{em1(IMPC)Wtsi} Herc1^{em2(IMPC)Wtsi} Herc1^{em3(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Herc1^em1Wtsi Herc1^em2Wtsi Herc1^em4Wtsi	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Herc1^em1Wtsi	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Herc1^em4Wtsi Herc1^em2Wtsi Herc1^em1Wtsi	PMC5827107

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
Herc1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Herc1^{em1(IMPC)Wtsi}	Point Mutation	Mice
Herc1^{em2(IMPC)Wtsi}	Point Mutation	Mice
Herc1^{em3(IMPC)Wtsi}	Exon Deletion	Mice
Herc1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Herc1 MGI:2384589

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

DSS Histology

X-ray

Eye Morphology

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Herc1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data