Gene: Nog MGI:104327

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Gene Summary


IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 kidney morphology Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal bone structure Nogem1(IMPC)Mbp HET Early adult 3.23×10-11
abnormal heart morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal somite shape Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
pale yolk sac Nogem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Nogem1(IMPC)Mbp HOM   Early adult 0.00
edema Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal embryo turning 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 1.50×10-07
abnormal forebrain development Nogem1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
small kidney Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Nogem1(IMPC)Mbp HOM E9.5 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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

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
Matching phenotypes Source
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Cervical Rib
Cervical ribs OMIM:117900
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Edema OMIM:614103
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Stapes ankylosis, Conductive hearing impairment... OMIM:185800
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus OMIM:301800
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Schisis Association
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Tracheoesophageal fistula ORPHA:63862
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Fanconi Anemia, Complementation Group O
Cryptorchidism, External genital hypoplasia, Anal atresia, Hydronephrosis, Renal cyst, Stage 5 ch... OMIM:613390
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... OMIM:182230
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Sirenomelia, Spina bifida, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Fus... OMIM:184460
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis ORPHA:1381
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Hol... ORPHA:95494
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Spina bifida occulta, Micrognathia, Narrow nasal bridge ORPHA:1514
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Spondylosis, Cervical
Cervical spondylosis, Spondylolisthesis, Spondylolysis, Spina bifida occulta OMIM:184300
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Stenosis of the external auditory canal, Conductive hearing impairment, ... ORPHA:1513
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Vertebral segmentation defect, Wide nasal bridge, Missing ribs, Spina b... ORPHA:1797
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Joint swelling, O... ORPHA:66627
Neuronal Intranuclear Inclusion Disease
Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormality of the pharynx ORPHA:2289
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Oeis Complex
Cryptorchidism, Bifid uterus, Duplicated colon, Hydroureter, Duplicated collecting system, Intest... OMIM:258040
Acrofacial Dysostosis, Catania Type
Short palm, Spina bifida occulta, Carious teeth OMIM:101805
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Missing ribs, Spina bifida ... OMIM:613686
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fanconi Anemia, Complementation Group L
Hydrocephalus, Esophageal atresia, Wide nasal bridge, Anal atresia, Cleft palate, Tracheoesophage... OMIM:614083
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Spina bifida occulta, Depressed nasal bridge ORPHA:2305
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Urethral diver... ORPHA:95706
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Intestinal atresia ORPHA:2368
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Laryngomalacia ORPHA:93941
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Delayed puberty,... ORPHA:95496
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Multiple Synostoses Syndrome
Conductive hearing impairment, Joint stiffness ORPHA:3237
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Depressed nasal bridge ORPHA:2840
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Rhizomelia, Limb undergrowth, Spina bifida occulta, Abnormality of the metaphysis ORPHA:177
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae OMIM:184400
Methimazole Embryofetopathy
Tracheoesophageal fistula, Choanal atresia, Esophageal atresia ORPHA:1923
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Renal agenesis, Spina bifida, Bifid scrotum, H... ORPHA:83628
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Duodenal atresia, Spina bifida occulta, Tracheoesophageal fi... OMIM:619227
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614840
Hypertelorism And Tetralogy Of Fallot
Talipes equinovarus, Patent ductus arteriosus, Spina bifida occulta, Depressed nasal bridge OMIM:239711
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Brachyolmia Type 1, Hobaek Type
Scoliosis, Pectus carinatum, Kyphosis, Back pain, Osteopenia, Flat acetabular roof, Intervertebra... OMIM:271530
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Anal stenosis, Rectovaginal fistula, Vesicoureteral reflux, Bicornuate uterus, Spina bifida occul... OMIM:300707
Fanconi Anemia, Complementation Group Q
Esophageal atresia OMIM:615272
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Micrognathia, 3-4 finger syndactyly, ... ORPHA:2437
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Short nose, Hydrocephalus, Aganglionic megacolon, Esophageal atresia, Anal atresia, Anteverted na... ORPHA:59315
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus ORPHA:77298
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Bulbous nose, Abnormal form of the vertebral bodies, Micrognathi... ORPHA:1787
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Renal dysplasia, Bicornuate uterus, Ectopic kidney... ORPHA:2578
Mental Retardation, Autosomal Dominant 52
Cryptorchidism OMIM:617796
Prune Belly Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Urogenital sinus anomaly, Hydrour... ORPHA:2970
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased res... OMIM:610829
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Cystic renal dysplasia, Gastroesophageal reflux, Unilateral ren... OMIM:156810
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anal atresia, High palate, Renal hypoplasia/aplasia, Anteri... ORPHA:2863
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Urethral valve, Xerostomia, Anal atresia, Hydronephrosis, Congenital... OMIM:100100
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Bethlem Myopathy 2
Scapular winging, Joint laxity, Kyphosis, Flexion contracture, Hip dislocation OMIM:616471
Fanconi Anemia, Complementation Group P
Cryptorchidism, Horseshoe kidney, Pelvic kidney OMIM:613951
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Abnormal internal genitalia, Multi... ORPHA:2973
Coffin-Siris Syndrome 11
Bulbous nose, Esophageal atresia, Bifid uvula, High palate, Cleft soft palate, Depressed nasal br... OMIM:618779
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sprengel anomaly, Abnormality of the pinna, Cervical C2/C3 vertebr... OMIM:214300
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Short 5th finger, Mandibular prognathia, Short ribs, C... OMIM:273750
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Multiple Synostoses Syndrome 1
Dislocated radial head, Cubitus valgus, Tarsal synostosis, Stapes ankylosis, Pectus excavatum, Sh... OMIM:186500
Holoprosencephaly 2
Adrenal hypoplasia, Holoprosencephaly, Anterior pituitary agenesis, Diabetes insipidus, Microceph... OMIM:157170
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Jejunal Atresia
Jejunal atresia OMIM:243600
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Large hands, Abnormalit... ORPHA:3219
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Tracheoesophage... OMIM:601346
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Short 5th metacarpal, Spondylolisthesis, Sandal gap, Anterior open-bite malocclusion,... OMIM:617877
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Abnormal form of the verte... ORPHA:2311
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Beaded ribs, Pectus excavatu... OMIM:259440
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Conductive hearing impairment, Beaded ribs, Hearing impairment, Osteopenia OMIM:616229
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Hydrocephalus OMIM:314390
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Kyphosis, Spina bifida occulta, Micromelia ORPHA:64755
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis OMIM:264600
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Pectus carinatum, Hemivertebr... OMIM:122600
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Fanconi Anemia, Complementation Group B
Hydrocephalus, Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Abnormal lung lob... OMIM:300514
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Vacterl With Hydrocephalus
Spina bifida, Hydrocephalus, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Anal atres... ORPHA:3412
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short nose, Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Micropenis, Hypoplasia of penis ORPHA:85274
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Broad thumb, Advanced eruption of teeth, Abnormal form of the v... ORPHA:949
Hereditary Mucoepithelial Dysplasia
Pulmonary fibrosis, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Recurrent resp... ORPHA:1839
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Decreased testicular size, Hypospadias OMIM:300997
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... ORPHA:1646
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Cleft palate, Hypoplasia of penis ORPHA:1580
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Renal agen... ORPHA:887
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Hearing impairm... OMIM:118100
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly ORPHA:2475
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia, Anal... OMIM:601389
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Intestinal malrotation, Abnormality of the clitoris,... ORPHA:93929
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short clavicles, Cli... OMIM:169550
Increased circulating prolactin concentration OMIM:615555
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis OMIM:274265
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Abnormal respirator... ORPHA:1018
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450
Caudal Regression Sequence
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Abnormality of the ureter, Vesicoureteral re... ORPHA:3027
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Renal hypoplasia, Duodenal atresia, Vesicoureteral reflux, Pelvic k... OMIM:603467
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphroditism, Hypo... ORPHA:752
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:146110
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Otofaciocervical Syndrome
Abnormal clavicle morphology, Abnormality of the antihelix, Scapular winging, Macrotia, Conductiv... ORPHA:2792
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Cryptorchidism, Duplicated colon, Renal malrotation, Horseshoe kidney, Bifid scrotum, Abnormality... ORPHA:227
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Sensorineural hearing impairment, Facial palsy,... ORPHA:2790
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidn... OMIM:601076
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Small hand, Spina bifida occulta... ORPHA:1786
Carpenter Syndrome 1
Scoliosis, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina bifida occulta, Mi... OMIM:201000
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Stillbirth OMIM:265880
Xk Aprosencephaly Syndrome
Anal atresia, Abnormal external genitalia ORPHA:3469
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney, Intestinal malrotation ORPHA:401935
Cleidocranial Dysplasia
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
Isolated Exencephaly
Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis, Anterior pituitary hypoplasia... ORPHA:563612
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism of the 4th finger, Symphalangism of the 5th finger, ... ORPHA:3246
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Dysphagia, Abnormal esophagus morphology, Spontaneous esophageal perforation OMIM:226600
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Limited elbow extension, Limited hip extension, Generalized joint laxity, Conductive hearing impa... OMIM:100800
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Anal atresia ORPHA:93950
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Atresia of the external auditory canal, Bilateral conductive hearing impairmen... ORPHA:2010
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Horseshoe kidney, Hypergonadotropic hypogonadism, Duplicated collecting system, E... OMIM:227646
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Hydrocephalus, Gastroesophageal reflux, ... ORPHA:1834
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification ORPHA:85179
Feingold Syndrome
Duodenal atresia, Anteverted nares, Esophageal atresia, Depressed nasal bridge ORPHA:1305
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Townes-Brocks Syndrome 2
Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula, Anal atresia, Spina bifida occul... OMIM:617466
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Conductive hearing impairment OMIM:303110
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Anaplastic Thyroid Carcinoma
Dysphagia, Laryngotracheal stenosis, Neoplasm of the lung, Hemoptysis, Tracheoesophageal fistula ORPHA:142
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydronephrosis, Pelvic kidney OMIM:613001
Microphthalmia, Syndromic 9
Cryptorchidism, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Hypoplasia of the uterus, ... OMIM:601186
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Horseshoe kidney, Vaginal fistula OMIM:619318
Arthrogryposis, Distal, Type 2A
Scoliosis, Rocker bottom foot, Short nose, Underdeveloped nasal alae, Camptodactyly, Flexion cont... OMIM:193700
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Spina bifida occulta, Abnormal digit morphology OMIM:268850
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Seckel Syndrome 2
Hypospadias, Microglossia, Ectopic kidney OMIM:606744
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus OMIM:125700
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Death in infancy, Sandal gap, Micrognathia, Short neck, Depressed na... OMIM:256050
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose, Spina bifida occulta ORPHA:1185
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Familial Expansile Osteolysis
Conductive hearing impairment, Osteolysis, Pathologic fracture, Bone pain OMIM:174810
Distal Trisomy 15Q
Cryptorchidism, High palate, Anal atresia, Abnormality of female external genitalia ORPHA:1707
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Stenosis of the external auditory canal, Question mark ear OMIM:615706
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia, Cleft palate, Abnormal intestine morphology, Tracheoesophageal... ORPHA:1848
Infantile Myofibromatosis
Abnormal intestine morphology, Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the... ORPHA:2591
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Cooper-Jabs Syndrome
Camptodactyly of finger, Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresi... ORPHA:1488
Alagille Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Long nose, Peripheral pulmonary artery steno... ORPHA:52
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Wide nasal bridge, Coarse metaphyseal trabec... ORPHA:2780
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Mosaic Trisomy 14
Cryptorchidism, Hypospadias, Ectopic anus, Cleft palate, High palate, Hypoplasia of penis ORPHA:1703
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Colonic Atresia
Colonic atresia OMIM:303650
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Knee flexion contracture,... OMIM:600175
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus, Abnormal lung lobation ORPHA:945
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Congenital Contractural Arachnodactyly
High palate, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula ORPHA:115
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Micropenis OMIM:300982
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Anteriorly placed anus, Vesicoureteral reflux, Hydronephrosis, Pelvic kidney, Hig... OMIM:618653
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, High palate, Aganglionic megacol... ORPHA:2473
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Endocardial Fibroelastosis
Cryptorchidism OMIM:226000
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bladder duplication, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Image Syndrome
Cryptorchidism, Hypogonadism, Hydronephrosis, Hypospadias ORPHA:85173
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Arrhinencephaly, Gastroesophageal reflux, Intestina... ORPHA:2538
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Cocaine Embryofetopathy
Intestinal atresia ORPHA:1911
Larsen Syndrome
Scoliosis, Multiple carpal ossification centers, Hypoplastic cervical vertebrae, Short metatarsal... OMIM:150250
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
High, narrow palate, Distal urethral duplication OMIM:277465
Non-Syndromic Anorectal Malformation
Rectourethral fistula, Rectal fistula, Hydrocolpos, Persistent cloaca, Ectopic anus, Rectovaginal... ORPHA:557
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney OMIM:615982
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hydroureter, Hypoplasia of penis OMIM:224250
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Short ribs, Narrow chest OMIM:211120
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Breast hypoplasia, Gastroesophageal reflux, Unilateral renal agenesis, Anterior p... ORPHA:464306
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Meningocele, Hypoplasia of the ol... ORPHA:1827
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple, Precocious puberty, Anal atresia OMIM:619243
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Gastroesophageal reflux, Unilateral renal agenesis, Duodenal atresia, Renal cyst,... ORPHA:464311
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Facial diplegia, Craniofacial osteosclerosis, Papilledema, He... OMIM:122860
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Pulmonary fibrosis OMIM:613989
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Distal Monosomy 10Q
Short metatarsal, Short nose, Patent ductus arteriosus, Wide nasal bridge, Lumbar hyperlordosis, ... ORPHA:96148
Periventricular Nodular Heterotopia 7
Cryptorchidism, Cleft palate OMIM:617201
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agen... ORPHA:2255
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Delayed eruption of teeth, Conical incisor, Pleural effusion, Camptodactyly, Umbilical... OMIM:235510
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Narrow ... OMIM:156530
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Lymphatic Malformation 2
Lymphedema OMIM:611944
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Intestinal malrotation, Abnormal... ORPHA:93930
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Gastroesophageal reflux, Abnormal esophagus morpho... ORPHA:89842
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Absent vas defe... ORPHA:411709
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
3Mc Syndrome 1
Wide anterior fontanel, Radioulnar synostosis, Single interphalangeal crease of fifth finger, Pat... OMIM:257920
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Knee pain, Irregular vertebral endplates, L... OMIM:184100
Apert Syndrome
Narrow palate, Choanal atresia, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula, Hydr... ORPHA:87
Thakker-Donnai Syndrome
Bulbous nose, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Anteverted nares, Co... ORPHA:1780
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Opitz Gbbb Syndrome, Type I
Cryptorchidism, Dysphagia, Gastroesophageal reflux, Cleft palate, Anal atresia, Hypospadias, High... OMIM:300000
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Choanal atresia, Esophageal atresia, Cleft palate, Anteverted nares OMIM:610536
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Abn... ORPHA:93315
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Esophageal stricture, Aspiration pneumonia, Hydrocephalus OMIM:617053
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Choanal atresia, Esophageal atresia, Ectopic anus, C... OMIM:101200
Chromosome 18P Deletion Syndrome
Cryptorchidism, Decreased testicular size, High palate, Gonadal dysgenesis, Micropenis OMIM:146390
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Joint laxity, Conductive hearing impairment, Recurrent otitis media, Synostosi... OMIM:157800
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Pectus carinatum, Kyphosis, Thoracolumbar scoliosis, Knee flexion... OMIM:313420
Caudal Duplication
Cryptorchidism, Spina bifida, Abnormal penis morphology, Intestinal duplication, Uterus didelphys... ORPHA:1756
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Joint contracture of the 5th finger, Microtia OMIM:248910
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Duodenal atresia, Cleft palate, Pelvic kidney OMIM:247200
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Penile Agenesis
Unilateral renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Hydroureter, Bilateral renal ag... ORPHA:49
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Trisomy 18
Spina bifida, Narrow palate, Short nose, Holoprosencephaly, Choanal atresia, Esophageal atresia, ... ORPHA:3380
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Bifid cl... OMIM:600057
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Autoimmune Polyendocrinopathy Type 3
Graves disease, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Hashimoto thyroidi... ORPHA:227982
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Camptodactyly Syndrome, Guadalajara Type 3
Broad nasal tip, Broad femoral neck, Small hand, Spina bifida occulta, Short foot, Retrognathia, ... ORPHA:488434
Renpenning Syndrome
Hypospadias, Anal atresia, Cleft palate, Decreased testicular size, High, narrow palate ORPHA:3242
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis OMIM:255900
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:616030
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Esophageal atresia OMIM:250250
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Abnormal nasopharynx morphology, Aplasia of metacarpal bones... OMIM:607323
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Osteopetrosis, Sensorineural he... ORPHA:1522
Otofaciocervical Syndrome 1
Conductive hearing impairment, Down-sloping shoulders, Scapular winging OMIM:166780
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Overfolded helix, Conductive hearing impairment, ... ORPHA:2876
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Abnormality of... ORPHA:2369
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Microphallus, Abnormal renal collecting system morphology, Unilateral renal agene... ORPHA:468631
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Preaxial hand polydactyly, Abnormal thumb morpho... ORPHA:1120
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis OMIM:607634
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Dubowitz Syndrome
Scoliosis, Delayed eruption of teeth, Broad thumb, Wide anterior fontanel, Toe syndactyly, Abnorm... ORPHA:235
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased nu... OMIM:617641
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Fibular aplasia, Camptodactyly, Flexion contracture of toe, Na... OMIM:300373
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina,... ORPHA:3109
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Tracheoesophageal fistula, Pyloric stenosis, Recurrent respiratory infe... ORPHA:379
3Mc Syndrome
Scoliosis, Hyperlordosis, Radioulnar synostosis, Umbilical hernia, Caudal appendage, Spina bifida... ORPHA:293843
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis OMIM:618392
Isolated Osteopoikilosis
Ectopic kidney ORPHA:166119
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Abnormal lung lobation, Morphological abnormali... ORPHA:141127
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Recurrent fractures, Reduced bone mineral density, Hearing impairmen... OMIM:166220
Smith-Magenis Syndrome
Hearing impairment, Morphological abnormality of the middle ear, EEG abnormality, Abnormality of ... OMIM:182290
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Prominent nasal bridge, Tracheoesophageal fistula ORPHA:3068
Duane Retraction Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Preaxial hand polydactyly, Abnormal form of the ve... ORPHA:233
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Intestinal malrot... ORPHA:1199
Distal Monosomy 13Q
Ambiguous genitalia, Renal hypoplasia/aplasia, Anal atresia ORPHA:1590
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Anterior hypopituitarism, Megalencephaly, Abnormal corpus c... ORPHA:280195
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
Wolfram-Like Syndrome
Male hypogonadism, Hypothyroidism, Delayed puberty, Diabetes mellitus, Central diabetes insipidus... ORPHA:411590
Autoimmune Polyendocrinopathy Type 4
Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Xerostomia, Type I diabetes mellit... ORPHA:227990
Zimmermann-Laband Syndrome 1
Scoliosis, Delayed eruption of teeth, Short distal phalanx of toe, Mandibular prognathia, Patent ... OMIM:135500
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Abnormality of the urinary system, Absent external genitalia, P... ORPHA:94095
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal... ORPHA:363444
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Congenital hip dislocation OMIM:133705
Fanconi Anemia, Complementation Group R
Anal atresia OMIM:617244
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... OMIM:618395
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Finger syndactyly, Umbilical hernia, Symphalangism affecting ... ORPHA:2990
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydroureter, Aganglionic megacolon, Rectovaginal fistu... OMIM:236700
Penoscrotal Transposition
Renal agenesis, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormalit... ORPHA:2842
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Joint stiffness, Delayed skeletal maturation ORPHA:1548
Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Sinusitis, Intestinal obstruction, Tracheoesophageal fistula ORPHA:442
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ro... OMIM:609052
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Osteolysis ORPHA:3019
Van Esch-O'Driscoll Syndrome
Scoliosis, Spina bifida occulta, Pulmonary artery stenosis OMIM:301030
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele, Nephroblastoma ORPHA:2128
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Short statur... ORPHA:1131
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Tubular metacarpal bones, Spina bifida occult... OMIM:211910
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Mental Retardation, Autosomal Dominant 51
Cryptorchidism OMIM:617788
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hypospadias ORPHA:250994
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck,... ORPHA:2114
Otosclerosis 10
Otosclerosis OMIM:615589
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Phocomelia, Schinzel Type
Short nose, Meningocele, Anal atresia, Cleft palate, High, narrow palate, Tracheoesophageal fistula ORPHA:2879
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Toe syndactyly, Short nose, Abnormal form of the vertebral... ORPHA:1327
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Pectus excavatum OMIM:609384
Beta-Ureidopropionase Deficiency