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Gene: Adnp2 MGI:2448562

Gene Summary

Name:

ADNP homeobox 2

Synonyms:

8430420L05Rik, Zfp508

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased prepulse inhibition	Adnp2^em3(IMPC)Tcp	HOM	Early adult	1.31×10^-10
decreased body length	Adnp2^em3(IMPC)Tcp	HOM	Early adult	5.20×10^-06
small adrenal glands	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
abnormal liver morphology	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
abnormal ovary morphology	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
increased grip strength	Adnp2^em3(IMPC)Tcp	HOM	Early adult	5.46×10^-09
small spleen	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
short tibia	Adnp2^em3(IMPC)Tcp	HOM	Early adult	2.67×10^-11
decreased bone mineral content	Adnp2^em3(IMPC)Tcp	HOM	Early adult	8.35×10^-06
abnormal uterus morphology	Adnp2^em3(IMPC)Tcp	HOM	Early adult	0.00
absent adrenal gland	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
abnormal sternum morphology	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
small kidney	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Adnp2^em3(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating total protein level	Adnp2^em3(IMPC)Tcp	HOM	Early adult	1.18×10^-05
abnormal liver morphology	Adnp2^em3(IMPC)Tcp	HOM	Late adult	0.00
enlarged lymph nodes	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
abnormal thymus morphology	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
decreased exploration in new environment	Adnp2^em3(IMPC)Tcp	HET	Late adult	1.01×10^-06
abnormal bone structure	Adnp2^em3(IMPC)Tcp	HOM	Early adult	7.44×10^-05
small uterus	Adnp2^em3(IMPC)Tcp	HET	Late adult	0.00
abnormal lung morphology	Adnp2^em3(IMPC)Tcp	HOM	Early adult	0.00
decreased bone mineral density	Adnp2^em3(IMPC)Tcp	HOM	Early adult	1.09×10^-05
abnormal liver morphology	Adnp2^em3(IMPC)Tcp	HOM	Early adult	0.00
cataract	Adnp2^em3(IMPC)Tcp	HET	Late adult	5.97×10^-08

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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

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

1 Images

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Histopathology

Images

27 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel A FCS file(s)

1 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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Immunophenotyping

Panel B FCS file(s)

5 Images

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Human diseases caused by Adnp2 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 Adnp2 (0 diseases)
Human diseases predicted to be associated with Adnp2 (370 diseases)

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

The table below shows human diseases predicted to be associated to Adnp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Cryptorchidism	OMIM:274205
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni...	OMIM:619151
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Immunodeficiency 43	Recurrent respiratory infections, Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiect...	OMIM:241600
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size	ORPHA:1875
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Refractory Celiac Disease	Elevated hepatic transaminase, Osteoporosis, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hyp...	ORPHA:398063
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymphangiectasis...	ORPHA:1655
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Abnormal femur morpho...	ORPHA:3130
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Micrognathia, Cryptorchidism, Jaundice, Flexion contracture, Clino...	OMIM:608093
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Lymphangiectasia, Intestinal	Stillbirth, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Slc35A2-Cdg	Osteopenia, Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finger, Crani...	ORPHA:356961
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, ...	OMIM:620076
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Micrognathia, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymphangiectasis...	OMIM:235255
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi...	OMIM:618117
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased circulating gonadotropin con...	OMIM:614841
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Clubbing of fingers, Hypoalbuminemia, Recurrent lower respiratory tract i...	OMIM:226300
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly	OMIM:300484
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormal vagina morphology, Abnorm...	ORPHA:2315
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619665
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development	OMIM:618078
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Hypoproteinemia	ORPHA:1116
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Attention deficit hyperact...	ORPHA:250994
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja...	OMIM:603553
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty	OMIM:300510
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pneumonia, Elevated circulating creatine kinase conc...	ORPHA:26793
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ...	OMIM:219080
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo...	OMIM:601076
Gonadoblastoma	Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s...	ORPHA:206484
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula...	OMIM:202010
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho...	OMIM:617690
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Congenital Analbuminemia	Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Rec...	ORPHA:86816
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosi...	ORPHA:2377
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion, Hypoprotein...	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, R...	OMIM:607143
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619203
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate...	OMIM:609441
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive az...	ORPHA:432
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary...	OMIM:615830
Seckel Syndrome 7	Abnormal carpal morphology, Central hypothyroidism, Hypoplasia of the uterus, Hip dysplasia, Clin...	OMIM:614851
Dengue Fever	Hepatomegaly, Hypoproteinemia	ORPHA:99828
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Decr...	OMIM:615300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ...	ORPHA:90791
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific...	ORPHA:785
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Septate vagina, Preaxial polydactyly, Hy...	OMIM:617925
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Aniridia, Hypoplastic sple...	OMIM:602361
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio...	OMIM:620306
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testosterone level, Congen...	ORPHA:96181
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary	ORPHA:314473
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoproteinemia, Pneumonia	OMIM:603554
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia...	OMIM:273395
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina morphology, Abnorma...	ORPHA:247768
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:614842
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ...	ORPHA:90790
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased...	OMIM:615954
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ...	OMIM:615363
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Mirage Syndrome	Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Hypospadias, Radial club ...	OMIM:617053
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia	OMIM:258865
Rudiger Syndrome	Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit	OMIM:268650
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hyponatremia, Hypertriglyceridem...	ORPHA:167
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn...	ORPHA:2975
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Genu ...	ORPHA:1381
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t...	OMIM:616258
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal circulating hormone concentration, Abnormal endometrium mo...	ORPHA:314478
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabet...	OMIM:137920
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinem...	ORPHA:79237
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Alpha-Methylacyl-Coa Racemase Deficiency	Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism, Depression	OMIM:614307
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypogonadism, Developmental ...	OMIM:619420
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di...	OMIM:617914
Hydatidiform Mole	Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Senior-Loken Syndrome	Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Co...	ORPHA:3156
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Decreased serum estradiol, Decreased circulating androgen concentration...	ORPHA:90796
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short metatarsal, Pseudohypoparathyroidism, Cognitive impairment, Bra...	OMIM:612463
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thu...	OMIM:618419
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto...	OMIM:258315
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Polycystic...	ORPHA:3085
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor...	ORPHA:251274
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter...	OMIM:601186
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaundice, Thrombocytopenia, Aplasia/Hypopl...	ORPHA:290
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se...	ORPHA:2410
Galactosemia I	Hepatomegaly, Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as...	OMIM:230400
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Depression, Memory impairment, Cho...	ORPHA:79095
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones,...	OMIM:614376
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac ...	ORPHA:96334
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, ...	OMIM:263520
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab...	ORPHA:755
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ...	OMIM:146200
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Femoral-Facial Syndrome	Short femur, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fibula morphology, Abn...	ORPHA:1988
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Cataract, Diabetes mellitus, Postaxial polydactyly, Nephro...	OMIM:209900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Hyperaldosteronism, Dexamethaso...	ORPHA:369929
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Cataract, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cataract, Chronic active hepatitis, Female hypogonadism, Decreased circulatin...	OMIM:240300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Rocker bottom foot, Adducted thumb	ORPHA:89844
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Metatarsus adductus, Brushfield spots, J...	OMIM:214110
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ...	ORPHA:1856
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular hypoplasia, L...	OMIM:164745
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper...	ORPHA:231580
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated circu...	OMIM:103580
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone...	ORPHA:99429
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Short...	OMIM:612462
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy, Brach...	OMIM:247410
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Brushfield sp...	ORPHA:912
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal...	ORPHA:54251
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,...	OMIM:615866
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis	OMIM:611812
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Abnorm...	ORPHA:958
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased...	OMIM:228300
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Cataract, Diabetes insipidus, Hydrou...	OMIM:222300
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly...	OMIM:309801
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Fe...	OMIM:618188
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre...	ORPHA:168558
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Mccune-Albright Syndrome	Abnormal femur morphology, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wastin...	ORPHA:562
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm	ORPHA:523
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Mucopolysacchariduri...	ORPHA:585
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fusion, 2-3 toe cutaneous ...	OMIM:206920
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Cryptorchidism, Postaxial...	ORPHA:139471
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Confusion, Oligosacchariduria, Hepatosplenomegaly, Depre...	ORPHA:309288
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis	ORPHA:369942
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Gout, Hyperproteinemia, Increased circulating renin level, Ch...	ORPHA:90041
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,...	ORPHA:2557
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Pulmonary arteriovenous malformation, Clubbing of fingers, Extrahepatic...	ORPHA:2929
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Craniosynostosis, Fibular aplasia	OMIM:218550
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Ambiguous genital...	ORPHA:140
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi...	ORPHA:3301
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim...	OMIM:146255
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Meckel Syndrome	Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu...	ORPHA:564
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb...	OMIM:261540
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Nephropathy, Hypothyroidism, Short distal phal...	ORPHA:1563
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe	OMIM:229230
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Neph...	ORPHA:2238
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Neutropenia, Lymph node hypoplasia, T lymphocytopenia, Conju...	OMIM:300755
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Corneal opacity, Cataract, Hy...	ORPHA:709
Doors Syndrome	11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Ambiguous genitalia, Catarac...	ORPHA:79500
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen...	ORPHA:2237
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis...	OMIM:218330
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Clubbing, Biliary tract abnormality, Abnormality of th...	OMIM:175200
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Cataract, Decreased response to growth hormone stimulat...	ORPHA:79444
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Elevated hepatic transaminase, Cataract, Severe B lymphocytop...	OMIM:620005
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl...	OMIM:269150
Chromosome 17Q12 Deletion Syndrome	Long toe, Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis,...	OMIM:614527
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ...	OMIM:130050
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Hypospadias, Tarsal synostosis, Camptod...	ORPHA:90652
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re...	OMIM:118450
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metacarpal,...	ORPHA:99413
Turner Syndrome	Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metacarpal,...	ORPHA:881
Mosaic Monosomy X	Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metacarpal,...	ORPHA:99228
Monosomy X	Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metacarpal,...	ORPHA:99226
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly, Micro...	OMIM:243605
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec...	ORPHA:572333
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Hypoplasminogenemia	Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ...	OMIM:271520
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis	OMIM:610125
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases during infectio...	ORPHA:509
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst, Thyroid adenoma	OMIM:617100
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Tibial Hemimelia	Absent tibia	OMIM:275220
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
Legius Syndrome	Short attention span, Cataract, Acute monocytic leukemia, Nephrolithiasis, Ovarian neoplasm, Diap...	ORPHA:137605
Oeis Complex	11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Cryptorchidism, Epispadi...	OMIM:258040
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopia...	OMIM:615877
Acromelic Frontonasal Dysplasia	Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo...	ORPHA:1827
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula...	OMIM:614083
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Finger syndactyly, Monorchism, Camptodactyly of finger, Microme...	ORPHA:2753
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Wolf-Hirschhorn Syndrome	Iris coloboma, Accessory spleen, Pseudoepiphyses of the metacarpals, Hypospadias, Short hallux, P...	OMIM:194190
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Aplasia/Hypo...	ORPHA:1521
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis...	ORPHA:797
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio...	OMIM:618280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis...	ORPHA:93271
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, 3-4 finger cutaneou...	ORPHA:69085
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Bifid uterus, Lo...	OMIM:256520
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Hypothyroidism, 2-4 ...	OMIM:107480
Carney Complex	Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cel...	ORPHA:1359
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of the ulna, Hypospadias, A...	OMIM:268300
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi...	OMIM:300373
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Charge Syndrome	Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, External genital h...	OMIM:214800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,...	ORPHA:457284
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes...	ORPHA:649
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Pontocerebellar Hypoplasia Type 7	Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Fatigable weakness of skeletal muscles, ...	ORPHA:284339
Coffin-Siris Syndrome 1	Joint laxity, Recurrent respiratory infections, Sandal gap, Hypospadias, Aplasia/Hypoplasia of th...	OMIM:135900
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Hip dysplasia, Ast...	ORPHA:2729
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia...	ORPHA:322
Loeys-Dietz Syndrome	Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Joint hyperf...	ORPHA:60030
Craniorachischisis	Bifid sternum	ORPHA:63260
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Micrognathia, Flexion con...	OMIM:601803
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Congenital hip dislocation, Hypospadias, Cryptorchidism, Osteoarthritis, Pneumo...	ORPHA:286

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - MPATH pathological process term neoplasia	Adnp2^em3(IMPC)Tcp	HOM		Early adult
Bone marrow - MPATH pathological process term hypoplasia	Adnp2^em3(IMPC)Tcp	HOM		Early adult

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 Adnp2.

No publications found that use IMPC mice or data for Adnp2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Adnp2^em3(IMPC)Tcp	Indel	Mice, Tissue
Adnp2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Adnp2^{tm445498(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Adnp2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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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