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Gene: Fhip1b MGI:1921599

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Gene Summary

Name:
FHF complex subunit HOOK interacting protein 1B
Synonyms:
Fam160a2,  4632419K20Rik,  6530415H11Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Early adult 2.56×10-08
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Middle aged adult 9.50×10-07
decreased locomotor activity Fhip1bem1(IMPC)Tcp HOM Early adult 9.18×10-06
decreased fasting circulating glucose level Fhip1bem1(IMPC)Tcp HOM Early adult 1.04×10-06
abnormal sternum morphology Fhip1bem1(IMPC)Tcp HOM Early adult 0.00
abnormal eye morphology Fhip1bem1(IMPC)Tcp HOM Early adult 0.00
abnormal pancreas morphology Fhip1bem1(IMPC)Tcp HOM Early adult 0.00
decreased circulating alkaline phosphatase level Fhip1bem1(IMPC)Tcp HOM Late adult 7.15×10-05
abnormal seminal vesicle morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
increased neutrophil cell number Fhip1bem1(IMPC)Tcp HOM Early adult 5.67×10-10
increased anxiety-related response Fhip1bem1(IMPC)Tcp HOM   Early adult 4.03×10-05
enlarged urinary bladder Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
decreased body length Fhip1bem1(IMPC)Tcp HOM   Early adult 6.79×10-05
enlarged heart Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
decreased lymphocyte cell number Fhip1bem1(IMPC)Tcp HOM Early adult 8.30×10-09
abnormal tooth morphology Fhip1bem1(IMPC)Tcp HOM Early adult 2.82×10-06
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Late adult 1.00×10-05
abnormal stomach morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

149 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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Histopathology

Images

14 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

36 Images

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Eye Morphology

Images Slit Lamp

86 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

5 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Fhip1b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fhip1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Neutropenia, Chronic Familial
Clubbing of fingers, Periodontitis, Premature loss of teeth, Clubbing, Gingivitis, Neutropenia OMIM:162700
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Bowing of the long bones, Gait disturbance, Abnormality of the de... ORPHA:2501
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal palate morphology, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digi... ORPHA:208441
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Colitis ORPHA:88643
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Serrated Polyposis Syndrome
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros... ORPHA:157798
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Attent... ORPHA:281090
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Perlman Syndrome
Retrognathia, High, narrow palate, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, ... ORPHA:2849
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Lymphopenia OMIM:615401
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Alpha-1-Antitrypsin Deficiency
Gastric varix, Reduced circulating alpha-1-antitrypsin concentration, Hepatocellular carcinoma, S... OMIM:613490
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the ovary, Hyperuricemia ORPHA:543
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Increased circulating creatine kinase MB isoform, Ventricular hypertroph... OMIM:300280
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Hyperactivity, Microdontia, Pancreatic steatosis, Neutr... OMIM:617052
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Reduction of neutrophil motility, Compulsive behaviors, Neutrophilia, Brachydactyl... OMIM:266265
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Pyloric stenosis, Overlapping toe, A... OMIM:614262
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atrophy, Increase... OMIM:235200
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Dila... ORPHA:2229
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirubinemia, Metap... OMIM:269920
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Confusion, Ca... OMIM:212140
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Thin vermilion border, Irritability, Hyperactivity, 2-3 toe syndactyly, Abnormality of the dentit... ORPHA:391307
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hepatitis, H... ORPHA:444463
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic deterioration, ... OMIM:252920
Aceruloplasminemia
Limb ataxia, Akinesia, Hypochromic microcytic anemia, Abnormal pancreas morphology, Memory impair... ORPHA:48818
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Aminoaciduria, Splenomegaly ORPHA:664
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy, Decreased fibular diamet... OMIM:616897
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Syndactyly OMIM:613576
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega... OMIM:619051
Ataxia-Telangiectasia
Abnormal testis morphology, Gait disturbance, Cognitive impairment, Ataxia, Type II diabetes mell... ORPHA:100
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, High palate, Anterior rib cupping, Thro... OMIM:617941
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Dec... OMIM:201475
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 3rd finger, Abnormal liver parenchyma morphology, Hyperechogenic pancreas,... ORPHA:456312
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Intrinsic Factor Deficiency
Absence of intrinsic factor, Reduced haptoglobin level OMIM:261000
Systemic Sclerosis
Pericarditis, Dysphagia, Abnormal phalangeal joint morphology of the hand, Intestinal bleeding, A... ORPHA:90291
Cyclic Neutropenia
Perianal abscess, Periodontitis, Atrophy of alveolar ridges, Oral ulcer, Lymphopenia, Gingivitis,... ORPHA:2686
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Clinodactyly of the 5th finger, Vesicoureteral reflux, Nephrolithiasis, Pyloric sten... OMIM:617219
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom... OMIM:617100
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:615518
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Cognitive impairment ORPHA:858
Ulnar-Mammary Syndrome
Abnormal metacarpal morphology, Hypoplasia of penis, Breast aplasia, Abnormal finger morphology, ... ORPHA:3138
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:1452
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Myeloprolif... ORPHA:100924
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology ORPHA:85447
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Short hallux, Pericardial effusion, Metaphyseal widening, Br... OMIM:239850
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Oral ulcer... ORPHA:486
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Hyperbilirubinemia, Hepatocellular carcinoma, Esophag... ORPHA:64743
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Abnormal dental enamel morpholo... ORPHA:1946
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal ossification, Metaphyseal cuppin... OMIM:613320
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... ORPHA:2795
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Protruding tongue, Aortic ... ORPHA:324410
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Aphthous ulcer, Carious teeth, Thrombocytopenia, Splenomegaly... OMIM:620603
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Feingold Syndrome
Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Deviation of the 2nd finger, M... ORPHA:1305
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent sinusitis, Thrombocytosis OMIM:619281
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Sinusitis, Neutrophilia, Thrombocytopenia, Splenomegaly, Eos... OMIM:226990
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, De... OMIM:617237
Fg Syndrome 3
Broad thumb, Pyloric stenosis, Cryptorchidism, Broad hallux OMIM:300406
Bronchogenic Cyst
Abnormal esophagus morphology, Abnormal pericardium morphology, Abnormal myocardium morphology, D... ORPHA:2357
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis, Microglossia, Thickene... OMIM:253250
Oslam Syndrome
Clinodactyly of the 5th finger, Increased mean corpuscular volume, Carious teeth, Radioulnar syno... ORPHA:2760
Beck-Fahrner Syndrome
Cardiomegaly, Depression, High palate, Hip dysplasia, Attention deficit hyperactivity disorder, V... OMIM:618798
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Precocious puberty, Pyloric stenosis, Clinodactyly, Bifid uvula, Cleft palate, Crypt... ORPHA:96184
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly OMIM:614702
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma, Cardiomyop... ORPHA:465508
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Hypoplasminogenemia
Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Decreased level ... ORPHA:722
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirub... ORPHA:234
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Jaundice, Irregular epiphyses, Early ossification of ... OMIM:208500
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Lethal Congenital Contracture Syndrome 10
Narrow palate, Short long bone, Femoral bowing, Hypoplasia of the thymus, High palate, Overriding... OMIM:617022
Systemic Lupus Erythematosus 17
Oral ulcer, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Hepatospleno... OMIM:618986
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, Annular pancreas, Clinodactyly of the 5th finger, Inability to walk, Gait imb... ORPHA:488642
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Clubbing of fingers, Preco... OMIM:175200
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Thin ribs, Pyloric stenosis, Mildly elevated creatine kinase, Cryptorchidism ORPHA:169189
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Cleft palate, Brachydactyly, Hypoplasia of ... ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Pearson Marrow-Pancreas Syndrome
Anorexia, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia,... OMIM:557000
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Congenital nephro... OMIM:256300
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Sinusitis, L... ORPHA:811
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin... OMIM:608836
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperamm... ORPHA:42
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Urinary excretion of sialylated oligosacchari... OMIM:256550
Bardet-Biedl Syndrome 1
High, narrow palate, Radial deviation of finger, Aganglionic megacolon, Postaxial hand polydactyl... OMIM:209900
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Cutaneous abscess, Persistence of primary teeth, Lymphopenia, R... OMIM:619752
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Staphylococcal Necrotizing Pneumonia
Confusion, Leukocytosis, Neutrophilia, Leukopenia, Addictive alcohol use, Diabetes mellitus, Leth... ORPHA:36238
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney OMIM:218350
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Small scrotum, Aplasia of the 3rd metacarpal, Absen... OMIM:181450
Trisomy 18P
High, narrow palate, Abnormal finger morphology, Bilateral cryptorchidism, Pyloric stenosis, Atte... ORPHA:1715
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa... ORPHA:1876
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovarian morphology, A... ORPHA:95699
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Cardiomegaly,... OMIM:601005
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated c... OMIM:255120
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Proximal placement of thumb, Pancreatic fibrosis, Ulnar deviation of the 2nd finger... OMIM:616263
Craniometadiaphyseal Dysplasia
Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, High palate, Microdontia,... OMIM:269300
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Shoulder dislocation, Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, High, narrow palate, Rena... ORPHA:228308
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux ORPHA:3137
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Radial deviation of finger, Clinodactyly OMIM:188025
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation OMIM:133705
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia OMIM:152800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Retrognathia, Anemia, Short philtrum, Schistocytosis, Short long bone, Downturned corners of mout... OMIM:301110
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Elevated circulating phytanic acid concentration, Abnorm... OMIM:266500
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria... ORPHA:552
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of the distal phalan... OMIM:265800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Clubbing, Splenomegaly OMIM:620367
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Broad-based gait, Tooth malposition, Dysdiadochokinesis, Gait disturbance, Cryptorchidism... OMIM:616541
Immunodeficiency 9
Amelogenesis imperfecta, Difficulty walking, Recurrent aphthous stomatitis, Abnormal natural kill... OMIM:612782
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Dysphagia, Gastrointestinal dysmotility, Cardiomegal... ORPHA:391428
Bohring-Opitz Syndrome
Narrow palate, Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Broad alveolar ridg... OMIM:605039
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Hand p... ORPHA:261197
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Enlarged metaphyses, Short metacarpal, T lymphocytopenia, Lymphopen... ORPHA:508533
Marden-Walker Syndrome
High, narrow palate, Hypospadias, Dextrocardia, High palate, Camptodactyly, Pyloric stenosis, Ara... OMIM:248700
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Cardiomegaly, Right... OMIM:306955
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Oral ulcer, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Hypokalemia, Clubbing, Colon cancer, Hematochezia, Hypo... OMIM:174900
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Ataxia, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Li... ORPHA:2750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short ribs, Femoral bowing, Short long bone, Acetabular spurs, Postaxial po... OMIM:615503
Metachromatic Leukodystrophy
Abnormal stomach morphology, Urinary incontinence, Emotional lability, Abnormal duodenum morpholo... ORPHA:512
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr... OMIM:617713
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
3P25.3 Microdeletion Syndrome
High, narrow palate, Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Pulmonic st... ORPHA:435638
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Fraser-Like Syndrome
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Oral ulcer, Hepatocellular carcinoma, Splenomegaly, Hypoglycemia, Pan... OMIM:232220
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Zellweger Syndrome
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Epiphyseal stippling, High palate, Cognitive imp... ORPHA:912
Dysosteosclerosis
Diaphyseal undertubulation, Abnormal metaphyseal trabeculation, Flared metaphysis, Delayed erupti... OMIM:224300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Distal Deletion 12Q
Biliary atresia, Hyperactivity, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of th... ORPHA:96149
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Cardiomegaly, Gastroesophageal reflux, Abnormal heart valve morpholo... ORPHA:363705
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Aplasia of the 1st metacarpal, Preaxia... OMIM:227646
Atelosteogenesis Type I
Abnormal fibula morphology, Abnormal pancreatic duct morphology, Short long bone, Micrognathia, C... ORPHA:1190
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Premature loss of teeth, C... OMIM:127550
Reni Syndrome
Ataxia, Lymphopenia, Hypoglycemia, Cryptorchidism, Mental deterioration OMIM:617575
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Supernumerary nipple, Midgut malrotation, Conge... OMIM:263750
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Eclabion, Carious teeth, Natal tooth, Lymphopenia, Neutropenia OMIM:616395
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ... OMIM:245600
Cantú Syndrome
Abnormal metaphysis morphology, Cardiomegaly, Short hallux, Finger syndactyly, Abnormal heart val... ORPHA:1517
Schimke Immuno-Osseous Dysplasia
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morphology,... ORPHA:1830
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Fg Syndrome Type 1
Abnormal thumb morphology, Hypospadias, Clinodactyly of the 2nd finger, Small pituitary gland, Fi... ORPHA:93932
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Annular pancreas, Delayed eruption of teeth, Mandibular prognathia, High pal... OMIM:268400
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, High palate, Hepatosplenomegaly, Left ventricular hype... ORPHA:79330
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Hereditary Chronic Pancreatitis
Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinoph... ORPHA:169160
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Ebola Hemorrhagic Fever
Acute pancreatitis, Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia, Hepatitis, Lethargy ORPHA:319218
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ... OMIM:258850
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Abnormal finger morphology, Short ribs, Cardiomyopathy,... ORPHA:3472
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Bifid scrotum, High palate, Camptodactyly, Cryptorchidism... OMIM:619148
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Dislocated radial head, Malrotation of colon, Hypopl... OMIM:122470
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, Clef... ORPHA:158687
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Epiph... OMIM:617425
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora... OMIM:620076
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Opitz-Kaveggia Syndrome
Narrow palate, Radial deviation of finger, Anal stenosis, Hypospadias, Prominent fingertip pads, ... OMIM:305450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulocytopenia, Sho... ORPHA:508542
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Lateral displacement of the femoral head, Anemia, Pancytopenia, Shall... OMIM:242900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Short lon... OMIM:263520
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Metaphysea... OMIM:250250
Disabling Pansclerotic Morphea Of Childhood
Oral ulcer, Neutropenia, Lymphopenia OMIM:620443
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... ORPHA:699
2Q37 Microdeletion Syndrome
Clinodactyly of the 5th finger, Supernumerary nipple, Finger syndactyly, Short metacarpal, Pylori... ORPHA:1001
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria OMIM:618886
Camurati-Engelmann Disease
Abnormal femur morphology, Ataxia, Leukopenia, Splenomegaly, Craniofacial osteosclerosis, Coxa va... ORPHA:1328
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Cardiomegaly, Short fourth me... OMIM:618143
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intestinal malrotation, Splenomegaly, Irritability, Patent f... OMIM:301068
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Hypoplasia of the thymus, T... OMIM:208900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low frustration tolerance, Patent foramen ovale, High palate, Congenital hip dislocation, Contrac... ORPHA:457279
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Oral ulcer, Acute pancreatitis, Granuloma, Hepatosplenomegaly, Splenomegaly, Ab... OMIM:618935
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Congenital Tracheal Stenosis
Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag... ORPHA:141127
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal testis morphology, Neutrophilia, Abnormality of the pancreas, Bra... ORPHA:54251
Macrocephaly/Autism Syndrome
Hepatomegaly, High palate, Short attention span, Splenomegaly, Lymphopenia, Long philtrum, Hydroc... OMIM:605309
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Progressive psychomotor deterioration, Increased urinary N-ac... OMIM:268800
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu... OMIM:232300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Stomatitis, Neutrophilia, Flaring of rib cage, Splenomegaly, Abscess, Broad ribs OMIM:612852
Apert Syndrome
Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Postaxial hand polydactyly, Cryptorchidism, ... OMIM:101200
Orofaciodigital Syndrome I
Radial deviation of finger, Ovarian cyst, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridg... OMIM:311200
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Icf Syndrome
Anemia, Protruding tongue, Micrognathia, Lymphopenia, Abnormality of neutrophils, Macroglossia ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Elevated circulating creatine kinase concentration, Dysphagia, Right ventricular hy... ORPHA:268
Mirage Syndrome
Rocker bottom foot, Anemia, Radial club hand, Decreased testicular size, Hypoplastic spleen, Thro... OMIM:617053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Splenomegaly, Lymphopenia, Ab... OMIM:602450
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue, Neutrophilia OMIM:614204
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Sm... OMIM:270400
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic liver disease OMIM:211890
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Anemia, Cognitive impairment, Lymphopenia, Abnormality of the pan... ORPHA:935
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Abnormal rib morphology, Cleft palate, Brachydactyly, Clu... ORPHA:1318
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metacarpal cortices, Thin metatarsal cortices, Slender long bone, Thin ribs, High palate, Ar... ORPHA:2463
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Confusion, Cardiomyopathy, Dementia, Cardiomegaly OMIM:105210
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Long philtrum, Anemia, Pancytopenia, Dental crowding, High palate, Hypoplasia of te... OMIM:620654
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Irregular epip... OMIM:618162
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Oral leukoplakia, Lymphopenia, Pancytopenia OMIM:619767
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... OMIM:266920
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Small scrotum, Short distal phalanx of finger, Increased densit... OMIM:269150
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Down Syndrome
Narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Sandal gap, Leukemia, N... ORPHA:870
Jacobsen Syndrome
Long philtrum, Annular pancreas, Abnormal palate morphology, Finger syndactyly, Missing ribs, Toe... ORPHA:2308
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Bifid uvula, Cl... OMIM:614921
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Oral ulcer, High palate, Hypoplasia... OMIM:612541
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Hepatomegaly, Anemia, Severe periodontitis, Premature loss of teeth, Long upper li... ORPHA:99843
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysphagia, Short distal phalanx o... ORPHA:798
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Esophageal Atresia
Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal... ORPHA:1199
Trisomy 8P
Clinodactyly of the 5th toe, Annular pancreas, Retrognathia, Clinodactyly of the 5th finger, Shor... ORPHA:264450
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Hyperactivity, Dental crowding, Impulsivity, Broad thumb, Aggress... ORPHA:353281
Relapsing Fever
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Hepatomegaly, Anemia, Pancytopenia, Oral ulcer, Leukocytosis, Portal hypertension, Aph... OMIM:615688
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hypospadias, Hyperu... ORPHA:93111
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly OMIM:619259
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Depression, Truncus arteriosus, ... ORPHA:261330
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, 11 pairs of ribs, Accessory spleen, Portal hypertension, Microdontia, Severe B lymphocyto... OMIM:620005
Meckel Syndrome
Accessory spleen, Postaxial hand polydactyly, Bowing of the long bones, Furrowed tongue, Asplenia... ORPHA:564
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hydroureter, Dextroc... ORPHA:2461
Fryns Syndrome
Rocker bottom foot, Long philtrum, Proximal placement of thumb, Thin ribs, Prominent fingertip pa... OMIM:229850
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
1P36 Deletion Syndrome
Dysphagia, Long philtrum, Hepatic steatosis, Hip dysplasia, Self-injurious behavior, Clinodactyly... ORPHA:1606
Frontometaphyseal Dysplasia 2
Short metatarsal, Gastroesophageal reflux, Flared metaphysis, Dislocated radial head, Patent fora... OMIM:617137
Alveolar Echinococcosis
Liver abscess, Anemia, Jaundice, Cholangitis, Abnormal spleen morphology, Biliary cirrhosis, Port... ORPHA:284
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal d... ORPHA:96191
Mucopolysaccharidosis Type 3
Genu valgum, Abnormal aortic valve morphology, Cardiomegaly, Hepatomegaly, Abnormal rib morpholog... ORPHA:581
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Abnormal forearm bone morphology, Splayed toes, Bicuspid aortic valve, Hypermobil... ORPHA:99413
Turner Syndrome
Ectopic kidney, Abnormal forearm bone morphology, Splayed toes, Bicuspid aortic valve, Hypermobil... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Abnormal forearm bone morphology, Splayed toes, Bicuspid aortic valve, Hypermobil... ORPHA:99228
Monosomy X
Ectopic kidney, Abnormal forearm bone morphology, Splayed toes, Bicuspid aortic valve, Hypermobil... ORPHA:99226
Reynolds Syndrome
Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Dysphagia, Xerostomia ORPHA:779
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni... ORPHA:454840
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Bifid distal phalanx of toe, Anal atresia, Clitora... OMIM:618419
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Proximal placement of thumb, Hypoplasia of penis, Hip dislocation, Aganglio... ORPHA:818
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Cryptogenic Organizing Pneumonia
Anorexia, Neutrophilia, Leukocytosis ORPHA:1302
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Tracheoesophageal fistula, Pulmoni... ORPHA:904
Liver Disease, Severe Congenital
Left atrial enlargement, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Splenomegaly, Card... OMIM:619991
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Impaired glucose tolerance, Pituitary adenoma... OMIM:219090
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Thrombocytopenia, B... OMIM:147791
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Clinodactyly of the 5th finger, Broad alveolar ridges, High palate, Furrowed to... OMIM:616975
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Sinusitis, Pur... OMIM:613179
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Pancreatic And Cerebellar Agenesis
Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus... OMIM:609069
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventric... OMIM:300967
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Dysphagia, Bicuspid aortic valve, Cardiomeg... OMIM:300855
Feingold Syndrome 1
Annular pancreas, Accessory spleen, 2-3 toe syndactyly, High palate, Everted lower lip vermilion,... OMIM:164280
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Breast hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Unilateral renal age... ORPHA:464306
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Progressive neurologic deterioration, Dysphagia, ... OMIM:608013
Sickle Cell Disease
Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Cardiomegaly, Renal insufficiency OMIM:603903
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Acute Generalized Exanthematous Pustulosis
Cheilitis, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Steatorrhea, Hypotriglyceridemia, Hyperbil... ORPHA:14
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Mandibular prognathia, Pseudoh... ORPHA:116
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Thin ribs, Tibial bowing, Bowing of the long bones, Nephrolithiasis,... OMIM:613848
Arterial Tortuosity Syndrome
Rocker bottom foot, Myocarditis, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hiatus ... ORPHA:3342
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Dental crowding, Impulsi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Dental crowding, Impulsi... ORPHA:353277
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Vici Syndrome
Everted upper lip vermilion, High palate, Median cleft palate, T lymphocytopenia, Cleft upper lip... OMIM:242840
Fucosidosis
Hepatomegaly, Glycopeptiduria, Coxa valga, Splenomegaly, Cardiomegaly, Oligosacchariduria, Mental... OMIM:230000
Bohring-Opitz Syndrome
Retrognathia, Annular pancreas, Inability to walk, Cholelithiasis, Metacarpophalangeal joint cont... ORPHA:97297
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Ataxia, Dysphagia, Lymphopenia, Overlapping fingers, Dysmetria, Absent uvula OMIM:619708
Coffin-Lowry Syndrome
Narrow palate, Thick lower lip vermilion, Widely spaced teeth, Bifid sternum, Hyperextensibility ... OMIM:303600
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Pancreatitis, Memory impairment, Confusion, Clubbing, Myelo... ORPHA:3260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ... OMIM:256040
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphopenia, Finger swelling OMIM:617591
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Impaired glucose tolerance, Glycosur... OMIM:137920
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Congenital hydrocele, Paroti... OMIM:620376
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Postaxial hand polydactyly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia OMIM:200995
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent aphthous stomatitis, Lymphocytosis, Neutrope... ORPHA:3261
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology... ORPHA:95430
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ... ORPHA:2136
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Clitoral hypertrophy, Enlarged labia minora, Polycysti... ORPHA:3404
Cornelia De Lange Syndrome
Proximal placement of thumb, Hypoplasia of penis, Oligodactyly, Intestinal malrotation, Hip dislo... ORPHA:199
Pancreatic Agenesis-Holoprosencephaly Syndrome
Solitary median maxillary central incisor, High palate, Pancreatic aplasia, Aplasia/Hypoplasia of... ORPHA:556955
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Co... ORPHA:365
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Elevated circulating creatine kinase concentration, Congenital pyloric atre... ORPHA:158684
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Whim Syndrome
Limb ataxia, Severe periodontitis, Parotitis, Abnormal neutrophil morphology, Sinusitis, Lymphope... ORPHA:51636
Marburg Hemorrhagic Fever
Anorexia, Jaundice, Pancreatitis, Neutrophilia in presence of infection, Confusion, Abnormal lymp... ORPHA:99826
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cleft palate, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Cushing Disease
Dementia, Decreased eosinophil count, Memory impairment, Depression, Emotional lability, Intra-or... ORPHA:96253
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Hepatic fibrosis, Portal hyp... ORPHA:731
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina... ORPHA:79403
Viss Syndrome
Rocker bottom foot, Coronary sinus enlargement, Intestinal malrotation, Arachnodactyly, Malpositi... OMIM:619472
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hammertoe, Patent foramen ovale, High palate, Cryptorchidism, Cardiomegaly, Finger... OMIM:620371
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplen... OMIM:618278
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Yunis-Varon Syndrome
Flat acetabular roof, Cardiomyopathy, Absent thumb, Short distal phalanx of finger, Clinodactyly,... OMIM:216340
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, Thin ribs, Pancreatic hyp... ORPHA:83617
Cutis Laxa, Autosomal Recessive, Type Iic
Patent foramen ovale, High palate, Camptodactyly, Bilateral cryptorchidism, Median cleft palate, ... OMIM:617402
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Vesicoureteral reflux, Urethral diverticulum, Pyloric stenosis, Dil... ORPHA:90349
Crimean-Congo Hemorrhagic Fever
Anorexia, Agitation, Jaundice, Hepatomegaly, Pancytopenia, Emotional lability, Parotitis, Confusi... ORPHA:99827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, High, narrow palate, Cardiomegaly ORPHA:91387
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Aphthous ulcer, Neutrophilia, Orchitis, Splenomegaly, Peritonitis OMIM:249100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Annular pancreas, Asplenia, Micrognathia, Cleft palate, Posterior rib fusion, Cleft... OMIM:265380
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Aicardi-Goutières Syndrome
Irritability, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Micropenis ORPHA:51
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Generalized Arterial Calcification Of Infancy
Irritability, Hypophosphatemic rickets, Cortical nephrocalcinosis, Abnormal calcification of the ... ORPHA:51608
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pancreatic adenocarcinoma, Dementia, Decreased eosinophil count, Memory impairment, Phe... ORPHA:99889
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Pancreatic cysts OMIM:193300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Arachnodactyly, Aortic valve stenosis, Ab... ORPHA:261537
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Microphthalmia, Syndromic 1
Rectal prolapse, Radial deviation of finger, Hydroureter, Hypospadias, Aganglionic megacolon, Hig... OMIM:309800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125

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 Fhip1b

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 Fhip1b.

No publications found that use IMPC mice or data for Fhip1b.

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MGI Allele Allele Type Produced
Fhip1bem1(IMPC)Tcp Inter-exon deletion Mice, Tissue

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