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Gene: Nog MGI:104327

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Gene Summary

Name:
noggin
Synonyms:
N/A

Order Alleles

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 embryo turning Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Nogem1(IMPC)Mbp HOM E9.5 0.00
small kidney Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal vitelline vasculature morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal snout morphology Nogem1(IMPC)Mbp HET Early adult 8.13×10-08
abnormal pharyngeal arch morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
edema Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal optic vesicle formation Nogem1(IMPC)Mbp HOM E9.5 0.00
increased circulating alkaline phosphatase level Nogem1(IMPC)Mbp HET Early adult 2.60×10-06
abnormal forebrain development Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal kidney morphology Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal bone structure Nogem1(IMPC)Mbp HET Early adult 5.74×10-08
abnormal blood vessel morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal caudal vertebrae morphology Nogem1(IMPC)Mbp HET   Early adult 1.19×10-06
abnormal somite shape Nogem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Nogem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Nogem1(IMPC)Mbp HOM   Early 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.

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

3 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Human diseases caused by Nog mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... OMIM:128980
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:618157
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... ORPHA:3232
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Cervical Rib
Cervical ribs OMIM:117900
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Lipedema
Edema OMIM:614103
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin... OMIM:221300
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin... ORPHA:3216
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased s... OMIM:173100
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala... OMIM:185800
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Schisis Association
Encephalocele, Anal atresia, Spina bifida, Cleft palate, Anencephaly, Tracheoesophageal fistula ORPHA:63862
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Anus, Imperforate
Anal atresia, Ectopic anus, Hypospadias OMIM:301800
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... ORPHA:90646
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Anterior pituita... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... ORPHA:231720
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints, Sacral dimple, Anencephaly, Ab... OMIM:182940
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal atresia, Gastroesophageal reflux, Esophageal stenosis, Esophageal food impaction, Esop... ORPHA:411696
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... OMIM:619350
Cocaine Embryofetopathy
Encephalocele, Intestinal atresia ORPHA:1911
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... OMIM:611572
Sirenomelia
Tracheoesophageal fistula, Anal atresia, Sirenomelia, Spina bifida ORPHA:3169
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym... OMIM:184460
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar synost... ORPHA:3268
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy, Conductive hearing impairment, Stenosis of the external a... ORPHA:1513
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Osteolysis, Conductive hearing impairment, Abnormality of the auditory canal, ... ORPHA:66627
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Anal atresia, Cryptorchidism, Hypoplasia of penis ORPHA:1381
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... ORPHA:67045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Scoliosis, Spina bifida occulta, Spina bifida ORPHA:64754
Oeis Complex
Duplicated colon, Hydroureter, Labial hypoplasia, Pelvic kidney, Rectovaginal fistula, Hydronephr... OMIM:258040
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Carious teeth, Short palm OMIM:101805
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs... ORPHA:1797
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary agenesis, Holopro... ORPHA:95494
Deafness, Autosomal Dominant 9
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... OMIM:601369
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect ORPHA:2956
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal vertebral morphology, Short thumb, Spina bifida occulta at S1 OMIM:102510
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, C... OMIM:615542
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Non-Syndromic Posterior Hypospadias
Anal atresia, Cryptorchidism, Esophageal atresia, Micropenis, Urethral diverticulum, Cleft palate... ORPHA:95706
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:300123
Gastroschisis
Intestinal atresia ORPHA:2368
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Parastremmatic Dwarfism
Scoliosis, Short neck, Kyphosis, Flexion contracture, Genu valgum OMIM:168400
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Atresia Of External Auditory Canal And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ... OMIM:108760
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Cryptorchidism, Stage 5 chronic kidney disease, External genital hy... OMIM:613390
Multiple Synostoses Syndrome
Conductive hearing impairment, Joint stiffness ORPHA:3237
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... OMIM:609813
Lumbar Syndrome
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... ORPHA:83628
Culler-Jones Syndrome
Hypopituitarism, Cryptorchidism, Hypogonadism, Diabetes insipidus, Ectopic posterior pituitary, A... OMIM:615849
Sprengel Deformity
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta OMIM:184400
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:300888
Prune Belly Syndrome
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Anal atresia, Urog... ORPHA:2970
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of verte... ORPHA:40
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Diabetes insipidus, Ectopic posterior pituit... ORPHA:95496
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Holoprosencephaly, Hydrocephalus ORPHA:77298
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... OMIM:301033
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Scoliosis, Spina bifida occulta, Limb undergrowth ORPHA:177
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl... OMIM:617805
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Microphallus, Hypogonadotropic hypogonadism OMIM:614840
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal dysplasia, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus... ORPHA:2578
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Anorectal anomaly ORPHA:2408
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Micrognathia ORPHA:1514
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe... OMIM:619227
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Rhombencephalosynapsis
Esophageal atresia, Anal atresia, Hydrocephalus, Aganglionic megacolon, Tracheoesophageal fistula ORPHA:59315
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Decreased circulating follicle stimulating horm... OMIM:613986
Isotretinoin Syndrome
Spina bifida occulta, Sacral dimple, Micrognathia ORPHA:2305
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Abnormal pinna morphology, Fused cervical vertebrae, Sensorineural... OMIM:214300
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Prune Belly Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, Hydroureter, Xerostomia, Congenital posterior ureth... OMIM:100100
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anal atresia, Cryptorchidism, High palate, Renal hypoplasia/aplasia, Midshaft hypospadias, Anteri... ORPHA:2863
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal thyroi... OMIM:616113
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Reduced circulating growth hormone concentration, Hypopituitarism, Impaired growth-hormone respon... OMIM:613038
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Hydrocephalus OMIM:314390
Vacterl/Vater Association
Hydronephrosis, Anal atresia, Cryptorchidism, Abnormal morphology of female internal genitalia, A... ORPHA:887
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia, Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Jejunal Atresia
Jejunal atresia OMIM:243600
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Anal atresia, Urogenital sinus anomaly, Hydroureter, Abnormal internal genitalia,... ORPHA:2973
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Anotia, Conductive hearing impairment, Microtia OMIM:613717
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Caudal Regression Syndrome
Anal atresia, Cryptorchidism, Ambiguous genitalia, Arrhinencephaly, Ectopic kidney, Abnormality o... ORPHA:3027
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Martinez-Frias Syndrome
Intestinal hypoplasia, Duodenal atresia, Jejunal atresia, Tracheoesophageal fistula, Intestinal m... OMIM:601346
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Genu varum, Irregular vertebral endplates, Pl... OMIM:609223
Holoprosencephaly 9
Cryptorchidism, Anterior pituitary agenesis, Hydrocephalus, Holoprosencephaly, Decreased response... OMIM:610829
Kyphomelic Dysplasia
Joint stiffness, Lateral clavicle hook, Flat acetabular roof, Missing ribs, Anterior rib cupping,... ORPHA:1801
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Butterfly vertebrae, Low back pain, Short neck, Missing ribs, Hemive... OMIM:122600
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Scoliosis, Pectus excavatum, Wormian bones, Multiple prenatal fractures, Kyphosis, B... OMIM:259440
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short neck, Meningocele, Umbilical hernia, Kyphosis, Spina bifida occulta, Abnormal in... ORPHA:2311
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short neck, Short 4th metacarpal, Supernumerary tooth, Spina bifida occulta, Small han... ORPHA:1787
Czeizel-Losonci Syndrome
Spina bifida, Thoracolumbar scoliosis, Myelomeningocele, Hydrocephalus, Pulmonary hypoplasia, Spi... ORPHA:2437
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Becker Nevus Syndrome
Micromelia, Scoliosis, Spina bifida occulta, Kyphosis ORPHA:64755
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydronephrosis, Anal atresia, Vesicoureteral reflux, Hypoplasia of the bladder, Clitoral hypertro... OMIM:300707
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Esophageal stricture OMIM:616029
Multiple Synostoses Syndrome 1
Enlargement of the costochondral junction, Pectus excavatum, Conductive hearing impairment, Stape... OMIM:186500
Cloacal Exstrophy
Anal atresia, Vesicoureteral reflux, Spina bifida, Horseshoe kidney, Hydroureter, Ureteropelvic j... ORPHA:93929
Ane Syndrome
Delayed puberty, Adrenocorticotropin deficient adrenal insufficiency, Abnormal response to ACTH s... ORPHA:157954
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulum, Narrow chest, Acetabular ... OMIM:617405
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Mixed hearing impairment, Hearing impairment, Abnormal rib morphol... OMIM:118100
Osteomesopyknosis
Increased bone mineral density, Scoliosis, Kyphosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... OMIM:301035
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Accelerated skeletal maturation, Abnormal form o... ORPHA:1354
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... ORPHA:79113
Fanconi Anemia, Complementation Group B
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Hydrocephalus OMIM:300514
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Spondylocostal Dysostosis 4, Autosomal Recessive
Scoliosis, Vertebral fusion, Abnormality of the odontoid process, Myelomeningocele, Short neck, H... OMIM:613686
Distal Deletion 10P
Anal atresia, Cryptorchidism, Polycystic ovaries, Cleft palate, Hypoplasia of penis, Ectopic anus ORPHA:1580
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenos... ORPHA:3412
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, High palate, Bifid uvula OMIM:618779
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis ORPHA:85274
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Branchiootic Syndrome
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... ORPHA:52429
Urofacial Syndrome 1
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Cryptorchidism, Hydroureter, Urethr... OMIM:236730
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphroditism, Hypo... ORPHA:752
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:453533
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Fanconi Anemia, Complementation Group F
Cryptorchidism, Vesicoureteral reflux, Duodenal atresia, Microphallus, Decreased response to grow... OMIM:603467
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Abnormal spermatogenesis,... ORPHA:1646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Ectopic anus, Cleft palate ORPHA:2476
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Anteriorly placed anus OMIM:615272
Bethlem Myopathy 2
Scoliosis, Distal joint laxity, Hip dislocation, Kyphosis, Scapular winging, Flexion contracture OMIM:616471
Otofaciocervical Syndrome
Down-sloping shoulders, Conductive hearing impairment, Protruding ear, Abnormal antihelix morphol... ORPHA:2792
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uterus, Cleft palate, Azoospermia, B... OMIM:601076
Three M Syndrome 1
Short neck, Increased vertebral height, Short ribs, Mandibular prognathia, Short 5th finger, Spin... OMIM:273750
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Bifid scrotum OMIM:264600
Fountain Syndrome
Short distal phalanx of finger, Scoliosis, Spina bifida, Kyphosis, Spina bifida occulta, Abnormal... ORPHA:3219
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Intestinal malrotation, Cryptorchidism ORPHA:401935
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias OMIM:312190
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism of the 5th finger, Finger symphalangism, Symphalangism of the 4th finger, Conductiv... ORPHA:3246
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Decreased response to growth hormone... ORPHA:90695
Bruck Syndrome 1
Scoliosis, Osteoporosis, Knee flexion contracture, Vertebral wedging, Kyphosis, Platyspondyly, Pr... OMIM:259450
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Barrett e... ORPHA:70482
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Gastroesophageal reflux, Hypospadias OMIM:300919
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal rib morphology, Facial palsy, Clavicular sclerosis, Sensorin... ORPHA:2790
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Furrowed tongue, Anorectal anomaly ORPHA:1839
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... OMIM:277300
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Sacral dimple, Kyphosis, Spina bifida occulta, Micrognathia OMIM:618291
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Spinal cord compression, Myelopathy OMIM:602475
Diphallia
Rectoperineal fistula, Duplicated colon, Cryptorchidism, Bifid penis, Renal duplication, Anal atr... ORPHA:227
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification ORPHA:85179
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Abnormal esophagus morphology, Spontaneous esophageal perforation, Esophageal stricture OMIM:226600
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Atresia of the external auditory canal, Carpal synostosis, Bilateral co... ORPHA:2010
Seckel Syndrome 2
Ectopic kidney, Microglossia, Hypospadias OMIM:606744
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Esophageal stenosis, Hypoperistalsis, Achalasia, Dysphagia, Morphologica... ORPHA:1018
Xk Aprosencephaly Syndrome
Anal atresia, Abnormal external genitalia ORPHA:3469
Spastic Paraplegia 18, Autosomal Recessive
Ankle clonus, Scoliosis, Kyphosis, Joint contracture OMIM:611225
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Cryptorchidism, Renal duplication, Micropenis, Tracheoesophageal fistula, Hor... OMIM:227646
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... ORPHA:50815
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Anal atresia, Vaginal fistula OMIM:619318
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Hydrocephalus, Morphologica... ORPHA:1834
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia OMIM:619859
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Joint stiffness, Long thorax, Abnormal enchondral ossificatio... ORPHA:2635
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Hypoplastic scapulae, Short clavicles, Spina bifida occulta, Back pain OMIM:169550
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Anal atresia ORPHA:195
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Anal atresia ORPHA:93950
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spondylolisthesis, Anterior open-bite malocclusion, Short toe, Spina bifida occulta, Short 5th me... OMIM:617877
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Anal atresia, Gastroesophageal reflux, Intestinal malrotation, Rectal atresia... ORPHA:2538
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... OMIM:275200
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Atresia of the external auditory canal, Conductive hearing impairment OMIM:221320
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Congenital Contractural Arachnodactyly
Intestinal malrotation, Tracheoesophageal fistula, High palate, Duodenal atresia ORPHA:115
Familial Expansile Osteolysis
Osteolysis, Conductive hearing impairment, Pathologic fracture, Bone pain OMIM:174810
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Reduce... ORPHA:1488
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Microphthalmia, Syndromic 9
Hydronephrosis, Cryptorchidism, Horseshoe kidney, Hypoplasia of the uterus, Renal malrotation, Bi... OMIM:601186
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Fanconi Anemia, Complementation Group R
Pelvic kidney, Anal atresia OMIM:617244
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Townes-Brocks Syndrome 2
Anal atresia, Bifid uterus, Spina bifida occulta, Vesicoureteral reflux, Rectovaginal fistula, Cr... OMIM:617466
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Anaplastic Thyroid Carcinoma
Dysphagia, Tracheoesophageal fistula, Laryngotracheal stenosis ORPHA:142
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Anal atresia, Aganglionic megacolon OMIM:235760
Distal Duplication 15Q
High palate, Anal atresia, Cryptorchidism, Abnormality of female external genitalia ORPHA:1707
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest OMIM:618110
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Butterfly vertebral arch, S... ORPHA:52
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Spina bifida occulta OMIM:268850
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, High palate, Cryptorchidism, Vesicoureteral reflux, Micropenis, Anteriorly placed... OMIM:618653
Infantile Myofibromatosis
Tracheoesophageal fistula, Intestinal obstruction, Abnormal intestine morphology ORPHA:2591
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Distal Deletion 13Q
Encephalocele, Anal atresia, Ambiguous genitalia, Renal hypoplasia/aplasia, Anencephaly ORPHA:1590
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Renal Agenesis
Proteinuria, Anal atresia, Renal insufficiency, Unilateral renal agenesis, Absent vas deferens, R... ORPHA:411709
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Anal fissure, Esophageal stenosis, Ankyloglossia, Esophageal stricture, ... ORPHA:89842
Mosaic Trisomy 14
High palate, Cryptorchidism, Cleft palate, Hypoplasia of penis, Ectopic anus, Hypospadias ORPHA:1703
Exstrophy-Epispadias Complex
Abnormality of the kidney, Renal duplication, Penoscrotal transposition, Horseshoe kidney, Cystoc... ORPHA:322
Middle Ear Neuroendocrine Tumor
Tinnitus, Abnormality of the auditory canal, Facial palsy, Sensorineural hearing impairment, Unil... ORPHA:100084
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Cleidocranial Dysplasia
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Mandibular prognathia, H... ORPHA:1452
Acrofacial Dysostosis, Catania Type
Microretrognathia, Spina bifida occulta, Carious teeth, Small hand, Short palm, Hypoplasia of the... ORPHA:1786
Isolated Exencephaly
Maternal diabetes, Holoprosencephaly, Anterior pituitary hypoplasia, Posterior pituitary agenesis ORPHA:563612
Mckusick-Kaufman Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Hydrometrocolpos, Urogenital sinus ano... ORPHA:2473
Pituitary Adenoma 1, Multiple Types
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:102200
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Acces Syndrome
Tracheoesophageal fistula OMIM:619959
Webb-Dattani Syndrome
Cryptorchidism, Diabetes insipidus, Decreased response to growth hormone stimulation test, Pituit... OMIM:615926
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ... ORPHA:3236
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, External genital hypoplasia, Hypogonadism, Renal cyst OMIM:615982
Immunodeficiency 12
Bronchiectasis, Esophageal stricture OMIM:615468
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentra... OMIM:275100
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Neonatal insulin-dependent diabetes... ORPHA:2255
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Advanced eruption of teeth, Spina bifida occulta, Micrognathia, S... ORPHA:949
Winchester Syndrome
Generalized osteoporosis, Arthropathy, Kyphosis, Carpal osteolysis, Osteolysis involving tarsal b... OMIM:277950
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Abnormality of the midd... OMIM:609166
Dyrk1A-Related Intellectual Disability Syndrome
Hydronephrosis, Cryptorchidism, Gastroesophageal reflux, Micropenis, Pyloric stenosis, Breast hyp... ORPHA:464306
Thoraco-Abdominal Enteric Duplication
Meningocele, Duodenal stenosis, Intestinal malrotation ORPHA:1759
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hydronephrosis, Cryptorchidism, Gastroesophageal reflux, Micropenis, Duodenal atresia, Renal cyst... ORPHA:464311
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Facial diplegia, Papilledema, Thickened ribs, ... OMIM:122860
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Sirenomelia, Abnormal intestine morphology, Cleft palate ORPHA:1848
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Anal atresia, Cryptorchidism, Precocious puberty OMIM:619243
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Osteogenesis Imperfecta, Type Xv
Scoliosis, Thin ribs, Bowing of limbs due to multiple fractures, Platyspondyly, Recurrent fractur... OMIM:615220
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Non-Syndromic Anorectal Malformation
Rectal fistula, Hydrocolpos, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningo... ORPHA:557
Acromelic Frontonasal Dysplasia
Encephalocele, Hypopituitarism, Cryptorchidism, Meningocele, Anterior pituitary hypoplasia ORPHA:1827
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Anotia, Conductive hearing impairment, Microtia OMIM:251800
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Conductive hearing impairment, Wormian bones, Osteopenia, Hearing impairment, Decrea... OMIM:616229
46,Xy Sex Reversal 4
Hydronephrosis, Anal atresia, High palate, Agonadism, Ureteropelvic junction obstruction, Hypopla... OMIM:154230
Acalvaria
Spina bifida, Holoprosencephaly, Abnormal lung lobation, Hydrocephalus ORPHA:945
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Low-set ears, Conductive hearing impairment, Enlarged vestibular a... OMIM:157800
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Conductive hearing impairment, Microtia OMIM:248910
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Short neck, Squared-off platyspondyly, Precocious costochondral os... OMIM:271630
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Knee flexion contracture, Kyphosis, Hip contracture, Arthrogryposis multiplex congenit... OMIM:600175
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Enlarged joints, Delayed skeletal maturation, K... OMIM:156530
Bladder Exstrophy
Recurrent urinary tract infections, Vesicoureteral reflux, Epispadias, Abnormality of the ureter,... ORPHA:93930
Arthrogryposis, Distal, Type 2A
Recurrent respiratory infections, Scoliosis, Short neck, Mandibular prognathia, Spina bifida occu... OMIM:193700
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Penile Agenesis
Rectal fistula, Hydronephrosis, Anal atresia, Cryptorchidism, Ambiguous genitalia, Fetal pyelecta... ORPHA:49
Miller-Dieker Lissencephaly Syndrome
Pelvic kidney, Cryptorchidism, Duodenal atresia, Cleft palate OMIM:247200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Inappropriate antidiuretic hormone secretion, Umbilical hernia, Decreased circul... ORPHA:226307
Caudal Duplication
Uterus didelphys, Cryptorchidism, Spina bifida, Myelomeningocele, Renal hypoplasia/aplasia, Abnor... ORPHA:1756
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Hypertrophy of the urinary bladder, Renal dysplasia, Urethral obstruction, Renal hy... OMIM:601389
Holoprosencephaly 2
Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus, Alobar holoprosencephaly, Se... OMIM:157170
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hyperlordosis OMIM:300718
Renpenning Syndrome
Decreased testicular size, Anal atresia, Cleft palate, High, narrow palate, Hypospadias ORPHA:3242
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
15Q24 Microdeletion Syndrome
Anal atresia, Cryptorchidism, Myelomeningocele, Microphallus, Decreased response to growth hormon... ORPHA:94065
Lymphatic Malformation 2
Lymphedema OMIM:611944
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior pituita... ORPHA:1435
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Short neck, Avascular necrosis of the capital femoral epiphysis, Cervical s... OMIM:184100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity, Joint hypermobility, Flexion contracture OMIM:618323
Verheij Syndrome
Short neck, Ventricular septal defect, Intrauterine growth retardation, Short stature, Branchial ... OMIM:615583
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Ambiguous genitalia, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism OMIM:617564
Carpenter Syndrome 1
Scoliosis, Short neck, Umbilical hernia, Persistence of primary teeth, Sacral dimple, Aplasia/Hyp... OMIM:201000
Mirage Syndrome
Achalasia, Hydrocephalus, Esophageal stricture, Gastroesophageal reflux OMIM:617053
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Micrognathia, Hyperlord... ORPHA:2780
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Limb undergrowth, Pulmonary... OMIM:256050
Apert Syndrome
Esophageal atresia, Bifid uvula, Hydrocephalus, Cleft palate, Narrow palate, Ectopic anus ORPHA:87
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Synostosis of carpal bones, Abnormal rib morphology, Cubitus valgus, Ver... ORPHA:1836
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism, Myelomeningocele ORPHA:2128
Phaver Syndrome
Low-set ears, Camptodactyly of finger, Conductive hearing impairment, Joint stiffness, Posteriorl... ORPHA:2876
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Platyspondyly, Enlarged joints, Pect... OMIM:313420
Image Syndrome
Hydronephrosis, Cryptorchidism, Hypogonadism, Hypospadias ORPHA:85173
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Retrognathia, Conical incisor, Umbilical hernia, Pleural lymphangiectasia, Spina bifid... OMIM:235510
Schizophrenia 1
Ectopic kidney, Partially duplicated kidney, Renal agenesis OMIM:181510
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Facial palsy, Osteopetrosis, Se... ORPHA:1522
Deafness, X-Linked 5, With Peripheral Neuropathy
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... OMIM:300614
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom... ORPHA:206549
Trisomy 18
Esophageal atresia, Anal atresia, Spina bifida, Holoprosencephaly, Cleft palate, Anencephaly, Nar... ORPHA:3380
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bladder Exstrophy And Epispadias Complex
Anteriorly placed anus, Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bif... OMIM:600057
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypopituitarism, Increased circulating prolactin concentration, Decreased response to growth horm... ORPHA:91354
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Hydrocephalus, Cleft palate, Tracheoesophageal fistula OMIM:614083
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tracheoesophageal fistula, Anal atresia, Rectovaginal fistula ORPHA:1780
Ochoa Syndrome
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Urinary incontinence, Renal i... ORPHA:2704
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Opitz Gbbb Syndrome
Anal atresia, Cryptorchidism, High palate, Micropenis, Rectourethral fistula, Gastroesophageal re... OMIM:300000
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:146110
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Abnormal renal collecting system morphology, Duodenal atresia, Microphallus, Unil... ORPHA:468631
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Cryptorchidism, Decreased numbers of nephrons,... OMIM:617641
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hypospadias ORPHA:250994
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Dysphagia, Achalasia, Esophageal stenosis OMIM:615510
Autoimmune Polyendocrinopathy Type 3
Graves disease, Thymoma, Hashimoto thyroiditis, Xerostomia, Hypergonadotropic hypogonadism, Centr... ORPHA:227982
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Chronic otitis media, Low-set ears, Abnormal clavicle morphology ORPHA:276422
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Unilateral... ORPHA:3109
3Mc Syndrome 1
Wide anterior fontanel, Sacral dimple, Short 5th finger, Spina bifida occulta, Caudal appendage, ... OMIM:257920
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Anal atresia, Hydrometrocolpos, Hydr... OMIM:236700
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Wormian bones, Hearing impairment, Bowing of limbs due to multiple ... OMIM:166220
Currarino Syndrome
Recurrent urinary tract infections, Anal atresia, Neurogenic bladder, Horseshoe kidney, Urinary i... OMIM:176450
Autoimmune Polyendocrinopathy Type 4
Graves disease, Thymoma, Hashimoto thyroiditis, Xerostomia, Hypergonadotropic hypogonadism, Centr... ORPHA:227990
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Anal atresia, Cryptorchidism, Gastroesophageal reflux, High palate OMIM:613792
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... OMIM:613239
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Joint stiffness, Kyphosis, Pectus carinatum, Delayed skeletal maturation ORPHA:1548
Van Esch-O'Driscoll Syndrome
Tracheoesophageal fistula, Esophageal atresia, Spina bifida occulta, Bifid uvula OMIM:301030
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Limitation of joint mobility ORPHA:3145
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Abnormal external genitalia,... ORPHA:2842
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Abnormality of the bladder, ... ORPHA:37202
Fetal Minoxidil Syndrome
Umbilical hernia, Cryptorchidism ORPHA:1918
Smith-Magenis Syndrome
EEG abnormality, Morphological abnormality of the middle ear, Abnormality of the outer ear, Heari... OMIM:182290
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Abnorma... ORPHA:66637
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Tracheoesophageal fistula ORPHA:3068
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... OMIM:266810
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Sho... OMIM:187760
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism OMIM:261550
Trisomy 1Q
Hydronephrosis, Anal atresia, Cryptorchidism, Ambiguous genitalia, Congenital megaureter, Cleft p... ORPHA:261344
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosis OMIM:607634
Pallister-Hall Syndrome
Hydronephrosis, Thyroid dysgenesis, Cryptorchidism, Decreased testicular size, Micropenis, Anal a... OMIM:146510
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Radioulnar synostosis, Pectus carinatum, Stapes ankylosis OMIM:614701
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... OMIM:274300
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Ramon Syndrome
Osteolysis, Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Ovoid vertebral bodies, Flat acetabular roof, Osteopor... OMIM:609052
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the lungs, Short thumb, Spina bifida, Anoma... ORPHA:1120
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thoracic kyphosis, EEG abnormality, Cervic... ORPHA:2332
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Anus, Imperforate
Anal atresia OMIM:207500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Short neck, Kyphosis, 11 pairs of ribs, Arthrogryposis multiplex congenita OMIM:618393
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cartilage-Hair Hypoplasia
Malabsorption, Esophageal atresia, Anal stenosis, Aganglionic megacolon OMIM:250250
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Umbilical hernia, Pulmonary hypoplasia, Spina bifida occulta, Micrognathia, Vertebral ... ORPHA:2990
Congenital Hypothyroidism
Macroglossia, Tracheoesophageal fistula, Intestinal obstruction, Umbilical hernia ORPHA:442
Joubert Syndrome 15
Exencephaly OMIM:614464
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the inner e... ORPHA:2549
Otosclerosis 10
Otosclerosis OMIM:615589
Hip Dysplasia, Beukes Type
Scoliosis, Abnormality of bone mineral density, Osteoarthritis, Kyphosis, Abnormal ossification i... ORPHA:2114
Bor Syndrome
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... ORPHA:107
Developmental And Epileptic Encephalopathy 63
EEG with generalized epileptiform discharges, Conductive hearing impairment OMIM:617976
Feingold Syndrome Type 1
Anal atresia, Esophageal atresia, Duodenal atresia, Jejunal atresia, Gastrointestinal atresia ORPHA:391641
Congenital Alveolar Capillary Dysplasia
Anal atresia, Intestinal malrotation, Volvulus, Aganglionic megacolon, Tracheoesophageal fistula,... ORPHA:210122
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Esophageal stricture OMIM:224230
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Anal atresia, Abnormality of the kidney, Micropenis, Horsesho... ORPHA:363444
Chronic Granulomatous Disease
Malabsorption, Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism OMIM:620211
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Increased incisura length, Stenosis of the external auditory canal, Ove... OMIM:612290
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Wide anterior fontanel, Joint dislocation, Recurrent...