Gene Summary

patched 1
wig,  Ptc,  Patched 1,  A230106A15Rik,  Ptc1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Ptch1 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 Ptch1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Diastema, Dental Medial
Widely-spaced maxillary central incisors, Diastema OMIM:125900
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Decreased fertility OMIM:158250
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Glioma Susceptibility 3
Astrocytoma, Medulloblastoma, Glioblastoma multiforme OMIM:613029
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Medulloblastoma OMIM:155255
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Ovarian neoplasm, Testicular sem... ORPHA:276399
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Taurodontia OMIM:272700
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Large Congenital Melanocytic Nevus
Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Pleuropulmonary blastoma OMIM:180295
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Basal Cell Nevus Syndrome
Cardiac fibroma, Ovarian carcinoma, Bifid ribs, Spina bifida, Mandibular prognathia, Brachydactyl... OMIM:109400
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79405
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly, Pectus excavatum... OMIM:605967
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Omphalocele, Autosomal
Omphalocele, Inguinal hernia OMIM:164750
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Uterine leiomyosarcoma, Uterine leiomyoma, Cu... OMIM:150800
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Monosomy 9Q22.3
Large for gestational age, Cardiac fibroma, Odontogenic keratocysts of the jaw, Delayed eruption ... ORPHA:77301
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Bardet-Biedl Syndrome 12
Obesity, Polydactyly OMIM:615989
Birt-Hogg-Dube Syndrome
Multiple lipomas, Renal neoplasm, Colon cancer, Cutaneous leiomyosarcoma, Trichodiscoma, Cutaneou... OMIM:135150
Omphalocele ORPHA:660
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Bardet-Biedl Syndrome 5
Brachydactyly, Obesity, Syndactyly, Polydactyly OMIM:615983
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... OMIM:617927
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Neurofibromatosis, Type I
Hydrocephalus, Plexiform neurofibroma, Rhabdomyosarcoma, Neurofibrosarcoma, Neurofibromas, Spinal... OMIM:162200
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Turcot Syndrome With Polyposis
Hepatoblastoma, Colon cancer, Lymphoma, Pilomatrixoma, Adenomatous colonic polyposis, Glioma, Pap... ORPHA:99818
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Bardet-Biedl Syndrome 6
Obesity, Syndactyly, Polydactyly OMIM:605231
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Colorectal Cancer
Uterine leiomyosarcoma, Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Trans... OMIM:114500
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Fanconi Anemia, Complementation Group N
Nephroblastoma, Short thumb, Medulloblastoma, Neuroblastoma OMIM:610832
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Craniofrontonasal Dysplasia
Widow's peak, Woolly hair, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Ridged fingerna... ORPHA:1520
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Infertility OMIM:166450
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251639
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251636
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti... ORPHA:294975
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Omphalocele, X-Linked
Omphalocele OMIM:310980
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Neuroblastoma, Cerebellar calcifications, Cerebellar cyst, Spinal cord tumor, Medulloblastoma, Ce... ORPHA:616
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Summitt Syndrome
Obesity, Syndactyly OMIM:272350
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Limitation of joint ... ORPHA:3098
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Cryptorchidism, Syndactyly, Short thumb, Highly ... OMIM:600325
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Talipes equinovarus OMIM:613681
Blue Rubber Bleb Nevus
Intussusception, Hemangioma, Cerebellar medulloblastoma, Rectal prolapse, Intestinal bleeding, Vo... OMIM:112200
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Abnormal digit morphology, Caudal appendage ORPHA:1123
Brachydactyly, Narrow palate, Wormian bones, Abnormality of pelvic girdle bone morphology, Promin... OMIM:265800
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Hamartoma, Spina bifida, Spina bifida oc... ORPHA:64754
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79402
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Enamel hypoplasia OMIM:275450
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bottom foot... OMIM:619110
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Postaxial polydactyly OMIM:615984
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Hypotelorism, Crypto... ORPHA:1387
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Breast carcinoma, Brain neoplasm, Neoplasm of the rectum, Adenocarcinoma of... ORPHA:447877
Cornelia De Lange Syndrome 5
Deeply set eye, Toe syndactyly, Happy demeanor, Short neck, Long eyelashes, Cryptorchidism, Clino... OMIM:300882
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Carious teeth, Enamel hypoplasia ORPHA:363523
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Ewing sarcoma, Leukemia, Rhabdomyosarcoma, Melanoma, Lymphoma, Osteosarcoma, Leiomyosarcoma, Pine... ORPHA:790
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Menorrhagia, Infertility, Oligomenorrhea OMIM:615555
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroblastoma, Ganglioneuroma OMIM:613013
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Hypertelorism, Midface retrusion, Brachycephaly, Metacarpal synostosis, Proptosis ORPHA:35099
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Hydrocephalus, Missing ribs, Single transverse palmar crease, ... OMIM:617866
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wormian bones, Coxa valga, Increased bone mineral density, Osteopenia, Broad femoral... ORPHA:85184
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Non-Distal Trisomy 10Q
Cryptorchidism, Pectus excavatum, Frontal bossing, Scoliosis, Brachycephaly, Hypertelorism ORPHA:1695
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Long eyelashes, Cryptorchidism, Midface retr... OMIM:618577
Exostoses, Multiple, Type Ii
Cervical myelopathy, Short metacarpal, Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pr... OMIM:133701
Exostoses, Multiple, Type I
Cervical myelopathy, Short metacarpal, Chondrosarcoma, Scapular exostoses, Multiple exostoses, Pr... OMIM:133700
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Hao-Fountain Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Micropenis, Aggressive behavior, Large fontanelle... OMIM:616863
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Familial Multiple Lipomatosis
Bowing of the long bones, Odontogenic keratocysts of the jaw, Medulloblastoma, Overgrowth ORPHA:199276
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Epidermal Nevus Syndrome
Lipoma, Spinal cord tumor, Rhabdomyosarcoma, Weakness of long finger extensor muscles ORPHA:35125
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Cryptorchidism, Metopic synostosis, Camptodactyly of toe, Broad ha... OMIM:175700
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Pierpont Syndrome
Deeply set eye, Short neck, Short palm, Cryptorchidism, Micropenis, Broad palm, Midface retrusion... OMIM:602342
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
O'Donnell-Luria-Rodan Syndrome
Deeply set eye, Kyphosis, Dolichocephaly, Cryptorchidism, Self-injurious behavior, Anxiety, Taper... OMIM:618512
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
7P22.1 Microduplication Syndrome
Cryptorchidism, Hypertelorism ORPHA:314034
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Cr... ORPHA:65759
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity, Hydrocephalus ORPHA:141333
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, M... OMIM:617925
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Micrognathia, Delayed ... ORPHA:163649
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Dolichocephaly, ... OMIM:614188
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Preaxial hand polydactyly, Scoliosis, Synophrys, Large hands, Low posterior hairl... ORPHA:85287
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hypotelorism, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Flat o... ORPHA:2511
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Abnormality of the ulna, Irregular menstruation, Abnormality of the nail, Cryptorchidism, Cone-sh... ORPHA:950
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Pierpont Syndrome
Deeply set eye, Short neck, Cryptorchidism, Deep palmar crease, Scoliosis, Short finger, Excessiv... ORPHA:487825
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Overlapping fingers, Preaxial polydactyly, Micrognath... OMIM:618142
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Deeply set eye, Shortening of all distal phalanges of the fin... OMIM:301900
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Thick eyebrow, Tapered finger, Emotional lability, Short foot OMIM:309585
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
Craniometadiaphyseal Dysplasia
Genu varum, High palate, Absent paranasal sinuses, Coxa valga, Osteopenia, Wormian bones, Carious... OMIM:269300
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Craniosynostosis, Proximal placement of thumb,... OMIM:218530
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... ORPHA:251393
Dyssegmental Dysplasia With Glaucoma
Short long bone, Elbow flexion contracture, Dolichocephaly, Flared metaphysis, Micromelia, Malar ... OMIM:601561
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... OMIM:146110
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Tapered finger, Hypoplasia of penis, Sparse body hair, Hypogonadism ORPHA:85274
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormal p... ORPHA:2097
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Carious teeth, Increased connective tissue, Enamel hypoplasia OMIM:226670
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Pilomatrixoma OMIM:132600
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Gorlin Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Vertebral wedging, Arachnodactyly, ... ORPHA:377
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Prominent metopic ridge, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Broad metata... OMIM:275595
Muenke Syndrome
Brachydactyly, Clinodactyly, Plagiocephaly, Thimble-shaped middle phalanges of hand, Hyperteloris... OMIM:602849
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Craniosynostosis, Finger syndactyly, Postaxial foot polydactyly, F... ORPHA:380
Disorganization, Mouse, Homolog Of
Multiple lipomas, Hand polydactyly, Sacral lipoma, Limb duplication, Hip dislocation OMIM:223200
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Mas... OMIM:122900
Gordon Syndrome
Finger syndactyly, Cryptorchidism, Clinodactyly of the 5th finger, Pectus excavatum, Scoliosis, C... ORPHA:376
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Brachydactyly, Hydrocephalus, Sandal gap, Preaxial polydactyly, Shield chest, Ulnar deviation of ... OMIM:612651
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse palmar crease, S... OMIM:601224
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Long philtrum, Abnormali... OMIM:616331
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Polydactyly, Brachycephaly, ... OMIM:603671
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, Self-biting, Unilateral renal agenesis, Deeply set eye, 2-3 toe syndactyly, Crypto... ORPHA:3306
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Craniosynostosis 2
Brachydactyly, Craniosynostosis, Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Fro... OMIM:604757
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Anxiety OMIM:617796
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Abnormal rib morphology, Micrognathia, Cleft palate, Encephalocel... ORPHA:90652
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypertelorism, Tapered finger, Pectus excavatum, Frontal bossing, Scoliosis, Bipolar af... ORPHA:276630
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Basal Cell Carcinoma, Susceptibility To, 1
Basal cell carcinoma OMIM:605462
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Anal stenosis, Lymphoma, Medulloblastoma, Anal atresia, Glioma, Cleft palate OMIM:251260
Temple Syndrome
Clinodactyly, High palate, Bifid uvula, Short philtrum, Flexion contracture, Overweight, Truncal ... OMIM:616222
Mosaic Variegated Aneuploidy Syndrome 1
Renal cyst, Leukemia, Rhabdomyosarcoma, Short sternum, Intrauterine growth retardation, Micrognat... OMIM:257300
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Bardet-Biedl Syndrome 4
Brachydactyly, Obesity, Syndactyly, Polydactyly OMIM:615982
Xq27.3Q28 Duplication Syndrome
Deeply set eye, Cryptorchidism, Sparse body hair, Small hand, Premature ovarian insufficiency, Sh... ORPHA:261483
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Micrognathia, High, narrow palate, Arachnodactyly, Joint hype... OMIM:604841
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Acrofrontofacionasal Dysostosis 2
Widow's peak, Sacral dimple, Hypertelorism, Bifid scrotum, Shawl scrotum, Broad hallux, Hand poly... OMIM:239710
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Sandal gap, Hyperlordosis, Broad distal phalanx of finger, Scoliosis, Sy... OMIM:615761
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Rhabdomyosarcoma, Colon cancer, Clinodactyly of the 5th finger, ... ORPHA:1052
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Micrognathia, Bilateral postaxial po... OMIM:252100
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Clinodactyly of the 5th finger, Anxiety, Conspicuously happy disposition, Fine ... ORPHA:251019
Meier-Gorlin Syndrome 7
Narrow mouth, Bowing of the legs, Clubbing, High palate, Craniosynostosis, 2-3 toe syndactyly, An... OMIM:617063
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Obesi... OMIM:615633
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb OMIM:274205
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Hyp... ORPHA:3201
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Clinodactyly of the 5th finger, Widely patent coronal suture, ... OMIM:228520
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... ORPHA:1193
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Bardet-Biedl Syndrome 19
Obesity, Polydactyly OMIM:615996
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... ORPHA:1801
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly OMIM:617119
Infantile Myofibromatosis
Sarcoma, Fibroma, Gingival fibromatosis, Tracheoesophageal fistula, Benign neoplasm of the centra... ORPHA:2591
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short ribs, Lobulated tongue, Preaxial polydactyly, Squared iliac bones, Rhizome... OMIM:616300
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Esophageal neoplasm, Cutaneous leiomyoma, Papillary renal cell car... ORPHA:523
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Platyspondyly, Mid... OMIM:264180
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
3Q13 Microdeletion Syndrome
Short neck, Cryptorchidism, Hypoplasia of penis, Abnormality of the fontanelles or cranial suture... ORPHA:1621
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Osteopenia, Long philtrum, Drooling, Abnormality of the dentition, Clin... ORPHA:576283
48,Xxxy Syndrome
Infertility, Cryptorchidism, Clinodactyly of the 5th finger, Abnormal aggressive, impulsive or vi... ORPHA:96263
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Dolichocephaly, Ovoid vertebral... ORPHA:40
Intellectual Disability, Wolff Type
Abnormality of the nail, Cryptorchidism, Clinodactyly of the 5th finger, Short distal phalanx of ... ORPHA:3080
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Micrognathia, Fron... ORPHA:1278
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Broad hallux, Partial ... ORPHA:2669
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Single transverse palmar crease, Distal arthrogryposis, Decreased hip a... OMIM:114300
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Trisomy 4P
Short neck, Radial club hand, Cryptorchidism, Thick eyebrow, Abnormal hair pattern, Preaxial hand... ORPHA:1738
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cryptorchidism, Hand polydactyly, Hypoplasia of penis, Displace... ORPHA:2377
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elbow flexion contracture, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion ... OMIM:600175
Lichtenstein Syndrome
Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Recurrent fractures, Multiple prenatal fractures... OMIM:259420
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... OMIM:618729
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Meige Disease
Angiosarcoma ORPHA:90186
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Small nail, Flexion contracture, Kyph... OMIM:618658
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Congenital Central Hypoventilation Syndrome
Neuroblastoma, Ganglioneuroblastoma, Aganglionic megacolon, Neoplasm of the central nervous syste... ORPHA:661
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-4 finger syndactyly, 2-3 toe syndactyly OMIM:227210
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Gómez-López-Hernández Syndrome
Hypertelorism, Midface retrusion, Toenail dysplasia, Turricephaly, Brachycephaly, Alopecia of scalp ORPHA:1532
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy, Lymphoma, Anal stenosis, Neoplasm, B-cell lymphoma, An... ORPHA:647
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Short neck, Kyphosis, Skeletal muscle atrophy, Rocker bottom foot, Cryptorch... OMIM:618393
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Minicore myopathy, Single transverse palmar crease, Dolichocephaly, Flexion contrac... ORPHA:178148
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Craniosynostosis, Toe clinodactyly, Finger syndactyly, Short palm, Short n... ORPHA:254346
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Recombinant Chromosome 8 Syndrome
Hypertelorism, Cryptorchidism, Clinodactyly of the 5th finger, Hydronephrosis, Midface retrusion,... OMIM:179613
1Q21.1 Microduplication Syndrome
Hypertelorism, Cryptorchidism, Frontal bossing, Arthrogryposis multiplex congenita, Talipes equin... ORPHA:250994
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Tetralogy Of Fallot
Brachydactyly, Dolichocephaly, Cryptorchidism, Clinodactyly of the 5th finger, Proptosis ORPHA:3303
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand, Tall stature, 2-3 ... ORPHA:3152
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Chromosome 3Pter-P25 Deletion Syndrome
Trigonocephaly, Sacral dimple, Hypertelorism, Postaxial polydactyly, Cryptorchidism, Tapered fing... OMIM:613792
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Abnormality of the ovary, Cubitus valgus, Hypogonadism, ... ORPHA:1875
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, High palate, Dolichocephaly, Open bite, Midface retrusion, Mandibular prognathia,... ORPHA:168624
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Scoliosis, Genu valgum OMIM:168400
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, Increased bone mineral density, Flat occiput, Thickened c... ORPHA:2780
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Acromesomelia, Blue irides, External genital hypoplasia, Self-mutilation, Short toe, Lumbar kypho... ORPHA:3041
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Central Y-shaped metacarpal... OMIM:277170
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Protrusio acetabuli, Camptodacty... OMIM:259600
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Anencephaly, Micrognathia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:614120