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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
increased total body fat amount	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.33×10^-15
abnormal lens morphology	Herc1^{em2(IMPC)Wtsi}	HOM	Early adult	9.78×10^-08
increased fasting circulating glucose level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.63×10^-05
increased monocyte cell number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
increased eosinophil cell number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
male infertility	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.80×10^-12
decreased bone mineral density	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	8.14×10^-10
increased circulating alkaline phosphatase level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.87×10^-06
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
increased circulating amylase level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.54×10^-13
cataract	Herc1^{em2(IMPC)Wtsi}	HOM	Early adult	9.78×10^-08
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
increased Ly6C low monocyte number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal retina morphology	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.45×10^-06
increased circulating chloride level	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.11×10^-19
increased red blood cell distribution width	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	5.02×10^-10
increased leukocyte cell number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	7.35×10^-06
increased Ly6C high monocyte number	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	0.00
decreased lean body mass	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	1.87×10^-12
impaired glucose tolerance	Herc1^{em3(IMPC)Wtsi}	HOM	Early adult	3.59×10^-06

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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

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

40 Images

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X-ray

XRay Images Skull Lateral Orientation

42 Images

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DSS Histology

Images

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Forepaw

41 Images

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Eye Morphology

Images Ophthalmoscopy

21 Images

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Anti-nuclear antibody assay

Images

10 Images

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Ear epidermis immunophenotyping

Images

36 Images

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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 (823 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		Low-set, posteriorly rotated ears, Joint laxity, Large for gestational age, Limitation of joint m...	ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation		Cerebellar atrophy, Gait ataxia, Disproportionate tall stature, Cerebral cortical atrophy, 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
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
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	Punctate corneal dystrophy, Cataract, 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
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Cataract 7	Developmental cataract	OMIM:115660
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Galactosemia Iv	Cataract	OMIM:618881
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	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 47	Microcornea, Cataract	OMIM:612018
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Galactosemia Ii	Cataract	OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
X-Linked Retinoschisis	Cataract	ORPHA:792
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Progressive cerebellar ataxia, Pr...	ORPHA:284332
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P...	ORPHA:494444
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pont...	OMIM:616053
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis...	ORPHA:199299
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, L...	OMIM:614860
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529799
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Facial palsy, Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Nathalie Syndrome	Cataract	OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Myh9-Related Disease	Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc...	ORPHA:182050
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Increa...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,...	OMIM:613845
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Increased C-peptide level...	ORPHA:276575
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Primary amenorrhea, Delayed...	OMIM:616033
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, EEG with generalized epileptiform discharges, As...	ORPHA:35878
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hypermobility, Cutaneous a...	OMIM:147060
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh...	OMIM:231200
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ...	ORPHA:791
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Galactokinase Deficiency	Premature ovarian insufficiency, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestatio...	ORPHA:79237
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni...	OMIM:619489
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpuscular h...	ORPHA:231226
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, T...	OMIM:617053
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Homozygous 11P15-P14 Deletion Syndrome	Congenital sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,...	ORPHA:2298
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Cellulitis	ORPHA:3165
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia	ORPHA:329249
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyp...	ORPHA:3008
Roifman Syndrome	Hip contracture, Retinal dystrophy, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal...	ORPHA:353298
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineura...	ORPHA:3085
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypoglycemic seizure...	ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Eosinophilia, Craniosynostosis	OMIM:618523
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis...	ORPHA:1667
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Hypercholesterolemia, Hypertriglyceridemia, Lip...	ORPHA:528
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Aniridia 3	Aniridia, Cataract	OMIM:617142
Alg8-Cdg	Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Optic atrophy, A...	ORPHA:79325
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Pellagra-Like Syndrome	Cataract	OMIM:260650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimo...	ORPHA:83601
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Cataract 24	Anterior polar cataract	OMIM:601202
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent...	ORPHA:90791
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Diabetes insipidus, Hypernatremia	OMIM:304800
Omenn Syndrome	Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Abnormal lymphocyte mor...	ORPHA:39041
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	OMIM:125800
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ...	OMIM:610600
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95512
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H...	ORPHA:95409
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorchidism, Giant platele...	OMIM:611209
Roifman Syndrome	Hip contracture, Splenomegaly, Retinal dystrophy, Eosinophilia	OMIM:616651
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidi...	OMIM:612541
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Failure to thrive, Reduced circulating growth hormone concentration, Hypoalbuminemia	OMIM:615508
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impa...	OMIM:617872
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre...	ORPHA:263455
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,...	OMIM:617388
Takenouchi-Kosaki Syndrome	Inguinal hernia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Sensor...	OMIM:616737
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Kimura Disease	Eosinophilia	ORPHA:482
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Pos...	ORPHA:369873
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Deafness-Infertility Syndrome	Male infertility, Azoospermia, Sensorineural hearing impairment	ORPHA:94064
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Diabetes Mellitus, Permanent Neonatal, 2	Reduced C-peptide level, Flexion contracture, Hypsarrhythmia, Type I diabetes mellitus, Hyperglyc...	OMIM:618856
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone ...	ORPHA:95613
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Wells Syndrome	Eosinophilia, Cellulitis	ORPHA:901
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive	OMIM:615387
Alg12-Cdg	Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Abnormal pinna mo...	ORPHA:79324
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Cataract 48	Cataract	OMIM:618415
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Atypical scarring of skin, Long hairs...	ORPHA:79273
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins...	ORPHA:293978
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ...	OMIM:214700
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hyponatr...	ORPHA:90794
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Nephrogenic Diabetes Insipidus	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	ORPHA:223
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Failure to thrive in infancy, Leukocytosis, Abnormal blood i...	ORPHA:810
Cystic Echinococcosis	Eosinophilia, Abscess, Abnormality of the testis size, Bone cyst, Weight loss, Hyperbilirubinemia...	ORPHA:400
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Mild neurosensory hearing impairment, Abnormal proportion of...	ORPHA:443811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating...	ORPHA:230
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min...	ORPHA:289548
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Increased...	ORPHA:168558
Whipple Disease	Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Arthritis, Erectile dysfunction, Hypoth...	ORPHA:3452
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia	OMIM:610247
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes...	ORPHA:231222
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Congenital Varicella Syndrome	Cataract	ORPHA:291
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Hypoglycemia, Low-set ears	OMIM:608688
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Glycosuria, Failure to thr...	ORPHA:97362
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati...	OMIM:124900
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Perlman Syndrome	Inguinal hernia, Posteriorly rotated ears, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Low-...	ORPHA:2849
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Estrogen Resistance Syndrome	Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H...	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Eosinophilia, Cutaneous abscess, Joint hypermobility, Sterile abscess	OMIM:618282
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Recurrent fractures, Joint hyperflexib...	ORPHA:2314
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergona...	OMIM:203800
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased ...	ORPHA:169160
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Sensorineural hearing impairment, Neu...	OMIM:615816
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia	OMIM:616176
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve...	ORPHA:210110
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Failure to thri...	OMIM:620157
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Hypothyroidism, Eosinophilia, Hepatosplenomegaly	OMIM:618999
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Posttransplant Acute Limbic Encephalitis	Hyponatremia, EEG with focal epileptiform discharges, Abnormal autonomic nervous system physiolog...	ORPHA:163921
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hyponatremia, H...	ORPHA:167
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Decreased circu...	OMIM:203400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyc...	OMIM:608594
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Sensorineural hearing impairment	ORPHA:3225
Aspergillosis	Osteomyelitis, Vitritis, Eosinophilia, Neutropenia	ORPHA:1163
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:613090
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity	OMIM:620195
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, O...	ORPHA:96253
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia, Hearing impairment	ORPHA:67048
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem...	ORPHA:90790
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Porphyria Variegata	Hyponatremia, Scarring, Abnormal circulating porphyrin concentration, Abnormal autonomic nervous ...	ORPHA:79473
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i...	OMIM:246200
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ...	ORPHA:1451
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi...	OMIM:209950
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, EEG abnormality, Increased circulating co...	ORPHA:1227
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Increased serum pro...	OMIM:601678
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Re...	OMIM:219800
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp...	ORPHA:274
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal...	OMIM:602450
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Abnormality o...	ORPHA:487796
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Hartsfield Syndrome	Posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Low-set ears...	OMIM:615465
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased distal sen...	ORPHA:206594
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Macrot...	OMIM:241200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ...	OMIM:611762
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Joi...	ORPHA:465508
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co...	OMIM:235200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the...	OMIM:102700
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98797
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Scarring, Retinal vascular proliferati...	OMIM:308300
Propionic Acidemia	Pancytopenia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, F...	OMIM:606054
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight	ORPHA:99852
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Thyroiditis, Weight loss	ORPHA:139402
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Tracheoma...	OMIM:620155
Legionnaires Disease	Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Cellulitis, Lymphopenia	ORPHA:549
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Delayed ossification of carpal bones, Eosinophilia	OMIM:617425
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm	OMIM:608653
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:95619
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re...	ORPHA:79474
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality of cervical plex...	ORPHA:449427
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Elevated hemoglobin A1c, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas...	OMIM:616113
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Bone cyst, Weight loss, Abnormal spleen morphology, Abnormal adrenal...	ORPHA:284
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi...	OMIM:619632
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Mpi-Cdg	Failure to thrive, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Protruding ear, Hypochloremia, Hyperactive renin-angiote...	ORPHA:89938
Diabetes And Deafness, Maternally Inherited	Sensorineural hearing impairment, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemi...	OMIM:520000
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Abnormal dental enamel morph...	ORPHA:464
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:544482
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Diabetes insipidus, Failure to thrive...	ORPHA:2162
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Stiff neck, Facial palsy, ...	ORPHA:79139
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Netherton Syndrome	Failure to thrive, Hypereosinophilia	OMIM:256500
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ...	ORPHA:2686
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abscess, Abnormal retinal morphology, Abnormality of the endocrine s...	ORPHA:228123
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Foot joint contracture, Scarring, Cryptorchidism, Macrotia, ...	ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Hypoammonemia, Protruding ear, Hyponatremia, Low-se...	ORPHA:534
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Adrenal insufficiency, Increased circulating...	ORPHA:427
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F...	OMIM:251000
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s...	ORPHA:3464
Stickler Syndrome, Type V	Cataract	OMIM:614284
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration, Hearing impairment	OMIM:120100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra...	OMIM:619260
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hype...	ORPHA:275761
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadis...	OMIM:617575
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia	OMIM:618182
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Eosinophilic Granulomatosis With Polyangiitis	Arthritis, Eosinophilia, Weight loss	ORPHA:183
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:602522
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Angiostrongyliasis	Stiff neck, Hypereosinophilia	ORPHA:74
Muckle-Wells Syndrome	Progressive sensorineural hearing impairment, Leukocytosis, Elevated circulating C-reactive prote...	OMIM:191900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Hypereosi...	ORPHA:508533
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Achromatopsia 3	Cataract	OMIM:262300
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul...	OMIM:193700
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end...	ORPHA:99889
Liver Disease, Severe Congenital	Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Joint...	OMIM:619991
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality of infra-orbital...	ORPHA:449563
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm...	OMIM:618183
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Sarcoidosis	Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Eosinophilia, Hypercalcemia, Facial palsy,...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperammonemia, EEG abnormality, Hyperuricemia, Anemia	OMIM:246450
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Conductive hearing impairment, Simple ear, Hyponatremia, De...	OMIM:201750
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Decreased thyroid-stimulating hormone level, Enlarged pituitary...	ORPHA:300373
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le...	ORPHA:3226
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypoglycemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decr...	ORPHA:453533
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Osteopenia, Hypergonadotropic ...	ORPHA:91
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Hearing impairment	OMIM:158310
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Isochromosomy Yq	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98798
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Fa...	OMIM:259720
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Recurrent fractures, Optic atrophy, Osteolysis	ORPHA:1764
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo...	ORPHA:411634
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abn...	OMIM:609069
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick...	ORPHA:2126
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Hyperg...	OMIM:615986
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Fused cervical vertebrae, Carpal synostos...	OMIM:274000
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s...	OMIM:201810
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Cockayne Syndrome A	Ivory epiphyses of the phalanges of the hand, Loss of facial adipose tissue, Retinal atrophy, Cry...	OMIM:216400
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Abnormality of the peripheral nervous system, Leukocytosis, Hype...	ORPHA:542643
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Weight loss, Progressive hearing ...	ORPHA:514
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis, Hyperglyc...	ORPHA:134
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Hypophosphatem...	OMIM:616026
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Seckel Syndrome 10	Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy...	OMIM:610505
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Low plasma citrulline, Optic atrophy, EEG abnormality, Fasting hypoglycemia, Impair...	OMIM:261680
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Thickened ears, Hypsarrhythmia	ORPHA:79134
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hypsarrhythmia, Leukopenia, R...	ORPHA:20
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Hepatospleno...	ORPHA:171
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Neutropenia, Osteoporosis, Gout, Hyperuricemia, Delay...	OMIM:232220
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Small for gestational age, Abnormal pinna morphology, Abnorm...	OMIM:133540
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Neutropenia, Joint contracture, Failure to thrive, Hypothyroidism	OMIM:618005
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Lymphatic Filariasis	Orchitis, Knee osteoarthritis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis	ORPHA:2035
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality of the anterior ...	ORPHA:449395
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Diabetes Mellitus, Permanent Neonatal, 3	Small for gestational age, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus...	OMIM:618857
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Infant Botulism	Hyponatremia	ORPHA:178478
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Megaloblastic anemia, ...	ORPHA:79282
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Failure to thrive in infan...	OMIM:619418
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Irregular me...	ORPHA:79259
Igg4-Related Submandibular Gland Disease	Abnormality of the thyroid gland, Prostatitis, Eosinophilia	ORPHA:449432
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Ectopic posterior pituitary, Hypoglycemia, Failure to thrive, Adrenal hypo...	ORPHA:95496
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Bloom Syndrome	Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ...	ORPHA:125
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o...	ORPHA:881
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A...	ORPHA:85450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal re...	ORPHA:909
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Hypoglycemia...	OMIM:613658
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Thrombocytosis, Impaired neutrophil chemotaxis, Perianal a...	ORPHA:2968
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Target cells, Retinopathy, Incr...	OMIM:603903
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H...	OMIM:131100
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia	ORPHA:75565
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Tenorio Syndrome	Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity	OMIM:616260
Tyrosinemia, Type I	Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegal...	OMIM:276700
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm	OMIM:613807
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Retinal detachment, Failure to ...	OMIM:619472
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia	ORPHA:3000
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Abdo...	OMIM:619321
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Partial Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre...	ORPHA:90797
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction	ORPHA:206448
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Conductive hearing impairment, Rod-c...	ORPHA:244
47,Xyy Syndrome	Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo...	ORPHA:8
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)...	ORPHA:401973
Trisomy 10P	Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit...	ORPHA:171929
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Hypophosphatemia, Decrease...	ORPHA:3337
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia, Delayed puberty	OMIM:232240
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypogona...	ORPHA:90695
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ...	ORPHA:99429
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Hypoglycemia, Hypogonadotropic hy...	ORPHA:95494
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ...	ORPHA:251510
Dermatomyositis	Abnormal eosinophil morphology, Weight loss, Arthritis, Cellulitis, Chondrocalcinosis	ORPHA:221
Ciliary Dyskinesia, Primary, 1	Male infertility, Conductive hearing impairment, Asplenia	OMIM:244400
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil...	ORPHA:1772
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Joint laxity, Large for gestational age, Limitation of joint m...	ORPHA:457359
Cystic Fibrosis	Male infertility, Failure to thrive, Hepatosplenomegaly	OMIM:219700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Gait ataxia, Disproportionate tall stature, Cerebral cortical atrophy, 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

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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

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Gene: Herc1 MGI:2384589

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

X-ray

DSS Histology

X-ray

X-ray

Eye Morphology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Herc1 mutations

Histopathology

IMPC related publications

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