Gene: Hoxa11 MGI:96172

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

homeobox A11

Synonyms:

Hox-1.9, Hoxa-11

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Hoxa11 mutations

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

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

Human diseases associated with Hoxa11 (2 diseases)
Human diseases predicted to be associated with Hoxa11 (1581 diseases)

The table below shows human diseases associated to Hoxa11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome		Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1		Proximal radio-ulnar synostosis, Hip dislocation, Limited pronation/supination of forearm, Syndac...	OMIM:605432

The table below shows human diseases predicted to be associated to Hoxa11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Spermatogenic Failure 17	Male infertility	OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Distal Symphalangism	Camptodactyly of finger, Synostosis of carpal bones, Joint stiffness, Symphalangism affecting the...	ORPHA:3248
Radial Hemimelia	Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma...	ORPHA:93321
Liebenberg Syndrome	2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal...	OMIM:186550
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 3	Reduced sperm motility, Male infertility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Reduced sperm motility, Male infertility	OMIM:400042
Spermatogenic Failure 55	Reduced sperm motility, Male infertility	OMIM:619380
Acropectorovertebral Dysplasia	Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl...	OMIM:102510
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Multiple Synostoses Syndrome 2	Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s...	OMIM:610017
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Syndactyly, Type V	Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4...	OMIM:186300
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Banki Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5t...	ORPHA:1228
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Humeroradial Synostosis	Humeroradial synostosis	OMIM:143050
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella	OMIM:617593
Arthrogryposis, Distal, Type 11	Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f...	OMIM:620019
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
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Osebold-Remondini Syndrome	Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia...	OMIM:112910
Tarsal-Carpal Coalition Syndrome	Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ...	OMIM:186570
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Syndactyly Type 5	Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o...	ORPHA:93406
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618341
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Abnormal spermatogenesis, Oocyte arrest at metaphase I	ORPHA:488191
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Craniosynostosis, Adelaide Type	Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ...	OMIM:600593
Symbrachydactyly Of Hands And Feet	Abnormality of the humerus, Scoliosis, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o...	ORPHA:1570
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis	OMIM:263450
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Symphalangism, Proximal, 1B	Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodactyly of the ...	OMIM:615298
Spermatogenic Failure 5	Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility	OMIM:243060
Spermatogenic Failure 44	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:619044
Spermatogenic Failure 21	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617187
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:617592
Proximal Symphalangism	Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos...	ORPHA:3250
Vertical Talus, Congenital	Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot	OMIM:192950
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia	OMIM:620196
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia	OMIM:612997
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe...	ORPHA:157801
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:615081
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Acromesomelic Dysplasia 2C	Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ...	OMIM:201250
Spermatogenic Failure 46	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:619095
Partial Chromosome Y Deletion	Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma...	ORPHA:1646
Spermatogenic Failure 33	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:617965
Spermatogenic Failure 48	Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility	OMIM:619108
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi...	OMIM:182255
Symphalangism, Proximal, 1A	Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala...	OMIM:185800
Congenital Radioulnar Synostosis	Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi...	ORPHA:3269
Premature Ovarian Failure 2B	Female infertility, Premature ovarian insufficiency, Primary amenorrhea	OMIM:300604
Spermatogenic Failure 72	Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618153
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia	OMIM:619102
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Bowing of the long bones, Abnormal epiphysis morphology, Abnormal...	ORPHA:1040
Ulnar Hemimelia	Scoliosis, Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality o...	ORPHA:93320
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Epiphyseal Dysplasia, Multiple, 7	Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke...	OMIM:617719
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Metacarpophalangeal synostosis, Carpal synostosis, Radial head subluxation, Apl...	OMIM:186400
Multiple Synostoses Syndrome 3	Metatarsal synostosis, Hallux varus, Broad thumb, Humeroradial synostosis, Cubitus valgus, Limite...	OMIM:612961
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc...	OMIM:617960
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619528
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligospermia	OMIM:619828
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu...	ORPHA:1836
Brachydactyly Type B2	Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d...	ORPHA:140908
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper...	OMIM:619585
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:620222
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil...	OMIM:618664
Spermatogenic Failure 76	Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli...	OMIM:620084
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Synost...	ORPHA:1275
Leri-Weill Dyschondrosteosis	Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca...	OMIM:127300
Ulnar Hypoplasia	Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ...	OMIM:191440
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Primary amenorrhea, Elevated circulating folli...	OMIM:609441
Spermatogenic Failure 50	Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility	OMIM:619145
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619696
Cervical Rib	Cervical ribs	OMIM:117900
Brachydactyly Type B	Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno...	ORPHA:93383
Brachydactyly Type A1	Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh...	ORPHA:93388
Spermatogenic Failure 41	Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia	OMIM:618670
Isochromosomy Yq	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp...	ORPHA:98798
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly...	OMIM:301059
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals	OMIM:269630
Metacarpal 4-5 Fusion	4-5 metacarpal synostosis, Short 5th metacarpal, 2-3 toe cutaneous syndactyly, Clinodactyly of th...	OMIM:309630
Brachydactyly, Type B2	Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan...	OMIM:611377
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619689
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly	OMIM:241000
Spermatogenic Failure 56	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619515
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Mesomeli...	ORPHA:2632
Symphalangism With Multiple Anomalies Of Hands And Feet	Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o...	ORPHA:3246
Congenital Vertical Talus	Pes planus, Pes valgus, Rocker bottom foot, Lower extremity joint dislocation, Achilles tendon co...	ORPHA:178382
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Tarsal synostosis, Radial bowing	OMIM:156232
Spermatogenic Failure 42	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal...	OMIM:618745
Leydig Cell Hypoplasia	Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ...	ORPHA:755
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Short neck, Abnormal metacarpal morphology, Decreased fertility, Abnormal morpholog...	ORPHA:2233
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 65	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619712
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 39	Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit...	OMIM:618643
Digitotalar Dysmorphism	Camptodactyly of finger, Ulnar deviation of finger, Rocker bottom foot	OMIM:126050
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Radial head subluxation, Fibul...	ORPHA:2634
Langer Mesomelic Dysplasia	Hypoplasia of the radius, Short tibia, Mesomelia, Micrognathia, Short femoral neck, Madelung defo...	OMIM:249700
Androgen Insensitivity, Partial	Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Abnormal rib cage morphology, Inf...	OMIM:312300
Ulnar Hypoplasia With Mental Retardation	Limited elbow movement, Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus	OMIM:276821
Acromesomelic Dysplasia 2A	Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro...	OMIM:200700
Ring Chromosome 4 Syndrome	Abnormal morphology of ulna, Abnormality of the upper limb, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius	ORPHA:1122
Spermatogenic Failure 54	Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone...	OMIM:619379
Léri-Weill Dyschondrosteosis	Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul...	ORPHA:240
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of femur morphology, Abnormal morphology of female internal genitalia, Aplasia/Hypopl...	ORPHA:2141
Arms, Malformation Of	Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna	OMIM:107900
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Lumbar hyperlordosis, Short metatarsal, Capitate-hamate fusion, Short me...	OMIM:271650
Ulna Hypoplasia-Intellectual Disability Syndrome	Ulnar deviation of finger, Mesomelia, Delayed cranial suture closure, Micromelia, Broad thumb, Ta...	ORPHA:2249
Chromosome 2Q35 Duplication Syndrome	3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S...	OMIM:185900
Caudal Appendage-Deafness Syndrome	Cryptorchidism, Abnormal digit morphology, Caudal appendage	ORPHA:1123
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Talo-Patello-Scaphoid Osteolysis	Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Short 4th metacarpal, Enlar...	ORPHA:50809
Heart-Hand Syndrome Type 2	Cryptorchidism, Abnormality of the humerus, Hand polydactyly, Joint stiffness, Aplasia/Hypoplasia...	ORPHA:1350
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short ...	ORPHA:93351
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Robin Sequence-Oligodactyly Syndrome	Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand...	ORPHA:3104
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp...	ORPHA:2639
Upper Limb Mesomelic Dysplasia	Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing	ORPHA:2497
Lethal Faciocardiomelic Dysplasia	Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t...	ORPHA:1972
Postaxial Oligodactyly, Tetramelic	Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat...	OMIM:176240
Mental Retardation Syndrome, Mietens-Weber Type	Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Pes planus, Elbow ...	OMIM:249600
Steel Syndrome	Limited elbow extension, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Dislocated radial head...	OMIM:615155
Brachydactyly Type A7	Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal...	ORPHA:93397
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov...	OMIM:609655
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn...	ORPHA:2064
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia o...	ORPHA:2491
Brachydactyly, Type C	Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ...	OMIM:113100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Cryptorchidism, Micropenis, Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia,...	OMIM:612447
Boomerang Dysplasia	Cryptorchidism, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of th...	ORPHA:1263
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx...	ORPHA:85188
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma...	OMIM:611102
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Micropenis, Short neck, Short metacarpal, Shield chest, Infertility, C...	ORPHA:261524
Pseudoachondroplasia	Scoliosis, Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregul...	ORPHA:750
Brachydactyly, Type A1	Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R...	OMIM:112500
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility	ORPHA:48
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ...	ORPHA:1986
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi...	ORPHA:988
Ring Chromosome Y Syndrome	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m...	ORPHA:261529
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal ...	ORPHA:957
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,...	OMIM:607078
Faciocardiomelic Dysplasia, Lethal	Short thumb, Radial deviation of the hand, Hypoplasia of the radius, Micrognathia, Talipes, Short...	OMIM:227270
Acromesomelic Dysplasia, Hunter-Thompson Type	Scoliosis, Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Abnormally s...	ORPHA:968
Otopalatodigital Syndrome, Type I	Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera...	OMIM:311300
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat...	ORPHA:1856
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand	ORPHA:1118
Arthrogryposis, Distal, Type 1A	Camptodactyly, Cryptorchidism, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping ...	OMIM:108120
Spermatogenic Failure, X-Linked, 2	Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility	OMIM:309120
Solitary Bone Cyst	Lytic defects of the radius, Abnormal ilium morphology, Abnormal humeral diaphysis morphology, Pr...	ORPHA:83468
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc...	ORPHA:399805
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short 5th finger, Aplasia/Hypoplasia of...	ORPHA:52056
Orofaciodigital Syndrome Type 10	Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia...	ORPHA:2756
Asherman Syndrome	Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal...	ORPHA:137686
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle	ORPHA:2010
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Diabetes insipidus, Syn...	ORPHA:1445
49,Xyyyy Syndrome	Decreased testicular size, Scoliosis, Generalized joint laxity, External genital hypoplasia, Prim...	ORPHA:99330
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias	OMIM:179250
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Pseudoepiphyses of...	OMIM:105835
Smith-Mccort Dysplasia 2	Broad metatarsal, Limited elbow extension, Flattened epiphysis, Short metatarsal, Flat acetabular...	OMIM:615222
Acromesomelic Dysplasia, Grebe Type	Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasi...	ORPHA:2098
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Scoliosis, Ambiguous genitalia, Short neck, Primary gonadal insufficienc...	ORPHA:261519
Ophthalmomandibulomelic Dysplasia	Elbow dislocation, Camptodactyly of finger, Abnormality of bone mineral density, Synostosis of ca...	ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Genu varum, Delayed ossification of carpal bones, Platyspondyly, Irregular acetabular roof, Metap...	OMIM:617974
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o...	ORPHA:90650
Ruvalcaba Syndrome	Delayed puberty, Scoliosis, Cryptorchidism, Proximal placement of thumb, Abnormality of the elbow...	ORPHA:3121
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of fibula morphology, Abnormal metaphysis morphology, Abnormal form of the vertebral ...	ORPHA:1837
Osteochondrosis Of The Tarsal Bone	Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Pedal edema, Flattening of th...	ORPHA:563991
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Shawl scrotum, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia ...	ORPHA:2256
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li...	ORPHA:75508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ...	OMIM:228930
Bowen-Conradi Syndrome	Micrognathia, Abnormal joint morphology, Rocker bottom foot, Clinodactyly of the 5th finger	OMIM:211180
Symphalangism, Distal	Craniosynostosis, Distal foot symphalangism, Absent dorsal skin creases over affected joints, Dis...	OMIM:185700
Weismann-Netter Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc...	ORPHA:3344
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Azoospermia, Male infertility	OMIM:277180
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor...	ORPHA:2019
Talonavicular Coalition	Proximal/middle symphalangism of 5th finger, Foot pain, Short hallux, Coalescence of tarsal bones...	OMIM:186750
Distal Arthrogryposis Type 1	Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphology, Rocker bottom f...	ORPHA:1146
Ivic Syndrome	Short 1st metacarpal, Small thenar eminence, Absent thumb, Short thumb, Preaxial polydactyly, Sho...	OMIM:147750
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m...	OMIM:614078
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short neck, Short 4th metacarpal, Hypergonadotropic hypogonadism, Azoospermia, Cubitus valgus, Ab...	ORPHA:2183
Acrocapitofemoral Dysplasia	Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ...	OMIM:607778
Acromesomelic Dysplasia 2B	Deviation of finger, Absent toe, Short metatarsal, Rhizomelia, Short metacarpal, Patellar disloca...	OMIM:228900
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619949
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Superior rib anomalies, Abnormality of the cervical spine, Hypergonadotropic h...	OMIM:307500
Holt-Oram Syndrome	Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius...	OMIM:142900
Testicular Agenesis	Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,...	ORPHA:325124
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Metaphyseal Chondrodysplasia, Schmid Type	Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr...	ORPHA:174
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Micropenis, Hypogonadism, Tapered finger, Hypoplasia of penis	ORPHA:85274
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Acrodysostosis	Cryptorchidism, Abnormal morphology of ulna, Hypogonadism, Short metatarsal, Short metacarpal, Ab...	ORPHA:950
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Scoliosis, Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum...	ORPHA:3268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Pes planus, Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patell...	OMIM:618395
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Camptodactyly of finger, Absent phalangeal crease, Calcaneovalgus d...	OMIM:601680
Spondyloperipheral Dysplasia	Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l...	OMIM:271700
Pseudoachondroplasia	Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg...	OMIM:177170
Spermatogenic Failure 77	Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll...	OMIM:620103
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand	OMIM:277150
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Seckel Syndrome 7	Hip dysplasia, Primary amenorrhea, Hypoplasia of the uterus, Madelung deformity, Short middle pha...	OMIM:614851
Multiple Synostoses Syndrome 1	Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver...	OMIM:186500
Winchester Syndrome	Arthropathy, Broad metacarpals, Kyphosis, Carpal osteolysis, Osteolysis involving tarsal bones	OMIM:277950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Short thumb	OMIM:274205
Arthrogryposis, Distal, Type 1B	Camptodactyly, Rocker bottom foot, Foot joint contracture, Talipes equinovarus, Joint contracture...	OMIM:614335
Gordon Syndrome	Camptodactyly of finger, Pectus excavatum, Scoliosis, Cryptorchidism, Finger syndactyly, Limitati...	ORPHA:376
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias	ORPHA:2252
Tetrasomy X	Premature ovarian insufficiency, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synost...	ORPHA:9
Mietens Syndrome	Elbow ankylosis, Hip dislocation, Hip dysplasia, Abnormality of fibula morphology, Avascular necr...	ORPHA:2557
Mesomelic Dysplasia, Savarirayan Type	Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl...	ORPHA:85170
48,Xyyy Syndrome	Short neck, Primary gonadal insufficiency, Dislocated radial head, Azoospermia, Radioulnar synost...	ORPHA:99329
Xq27.3Q28 Duplication Syndrome	Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Hypogonadism, Small h...	ORPHA:261483
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ...	OMIM:614840
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:71289
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu...	OMIM:229070
Humero-Radio-Ulnar Synostosis	Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Radioulnar syno...	ORPHA:3266
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm, Brachydactyly	ORPHA:3238
Premature Ovarian Failure 6	Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:612310
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Areflexia of lower limbs, Hyporeflexia of lower limbs	OMIM:162370
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,...	OMIM:108420
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial me...	ORPHA:457395
Dyggve-Melchior-Clausen Disease	Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,...	OMIM:223800
Mueller-Weiss Syndrome	Positional foot deformity, Knee osteoarthritis, Fragmented, irregular epiphyses, Joint subluxatio...	ORPHA:566943
Bowen-Conradi Syndrome	Camptodactyly of finger, Cryptorchidism, Rocker bottom foot, Micrognathia, Clinodactyly of the 5t...	ORPHA:1270
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr...	ORPHA:2878
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal chondrodysplasia, Rhizomelia, Short palm, Micrognathia, Abnormality of the calcaneus,...	ORPHA:163966
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the ut...	ORPHA:2578
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:206920
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Narrow palm, Hypogonadotropic hypogonadism, Small hand, Abnormal uln...	ORPHA:177910
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho...	ORPHA:399808
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Testicular atrophy	OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Abnormal sperm morphology, Delayed puberty, Decreased testicular size, Testicular...	ORPHA:52901
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Abnormality of the thyroid gland, Hypogonadism, Short neck, Abnormalit...	ORPHA:2234
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Acheiropody	Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m...	OMIM:200500
Frontometaphyseal Dysplasia 1	Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal...	OMIM:305620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Arthrogryposis multiplex congenita,...	OMIM:178110
Spermatogenic Failure 38	Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ...	OMIM:618433
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob...	OMIM:616950
48,Xxyy Syndrome	Decreased testicular size, Scoliosis, Cryptorchidism, Hip dysplasia, Hypergonadotropic hypogonadi...	ORPHA:10
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Decreased resp...	OMIM:216100
Deleted in azoospermia	Azoospermia	OMIM:400003
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla...	OMIM:609616
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Short humerus, Cryptorchidism, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic s...	OMIM:602471
Tibial Aplasia-Ectrodactyly Syndrome	Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,...	ORPHA:3329
Temtamy Preaxial Brachydactyly Syndrome	Short metatarsal, Syndactyly, Short metacarpal, Carpal synostosis, Radioulnar synostosis, Clinoda...	OMIM:605282
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of t...	ORPHA:971
Enthesitis-Related Juvenile Idiopathic Arthritis	Knee osteoarthritis, Abnormal metatarsal morphology, Abnormal metacarpophalangeal joint morpholog...	ORPHA:85438
Spondylometaphyseal Dysplasia, Type A4	Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O...	OMIM:609052
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Scoliosis, Joint stiffness, Finger syndactyly, Synostosis of carpal bone...	ORPHA:1323
Spermatogenic Failure 51	Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh...	OMIM:619177
Ellis-Van Creveld Syndrome	Horizontal ribs, Cryptorchidism, Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2...	OMIM:225500
Cenani-Lenz Syndrome	Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno...	ORPHA:3258
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Generalized joint laxity, Primary amenorrhea, Hypoplasia of the uterus, Male hyp...	ORPHA:432
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi...	OMIM:603546
Mesomelic Dysplasia, Nievergelt Type	Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Bilateral single transverse...	ORPHA:2633
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Scoliosis, Dumbbell-shaped femur, Irregular, rachitic-like metaphys...	OMIM:184252
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Micrognathia, Radioulnar synostosis, Broad hallux, Hypoplasia of the ulna, Metacarpal...	OMIM:212780
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short thumb, Proximal placement of thumb, S...	ORPHA:2438
Mesomelia-Synostoses Syndrome	Abnormality of the humerus, Ulnar deviation of finger, Joint stiffness, Abnormality of the knee, ...	ORPHA:2496
X-Linked Intellectual Disability, Siderius Type	Decreased testicular size, Scoliosis, Cryptorchidism, Preaxial hand polydactyly, Large hands	ORPHA:85287
Dysspondyloenchondromatosis	Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Joint dislocation, Anisosp...	ORPHA:85198
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl...	OMIM:609432
Acheiropodia	Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A...	ORPHA:931
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Absent radius, Genu varum, Phocomelia, Aplasia of the uterus, Coxa valga, Finger...	ORPHA:3320
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Short tibia, Pseudoarthrosis	OMIM:156230
Postaxial Acrofacial Dysostosis	Pectus excavatum, Cryptorchidism, Congenital hip dislocation, Supernumerary vertebrae, Micropenis...	OMIM:263750
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu...	OMIM:606895
Ivic Syndrome	Scoliosis, Joint stiffness, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulna...	ORPHA:2307
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de...	OMIM:614837
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped verteb...	OMIM:602111
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia	OMIM:615703
Metatropic Dysplasia	Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap...	OMIM:156530
Shox-Related Short Stature	Forearm undergrowth, Lower limb undergrowth, Madelung deformity, Cubitus valgus, Micrognathia, Sh...	ORPHA:314795
W Syndrome	Camptodactyly, Pes planus, Pes cavus, Metatarsus adductus, Cubitus valgus, Hypoplasia of the ulna...	ORPHA:2804
Arthrogryposis, Distal, Type 1C	Camptodactyly of finger, Scoliosis, Cryptorchidism, Camptodactyly of toe, Short neck, Knee flexio...	OMIM:619110
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Supernumerary nipple, Finger syndactyly, Hypoplasia of the ulna, Microgn...	ORPHA:246
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Pectus excavatum, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervica...	OMIM:615349
Diamond-Blackfan Anemia 11	Unilateral radial aplasia, Forearm reduction defects, Radioulnar synostosis, Hypoplasia of the ul...	OMIM:614900
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Delayed proximal fem...	OMIM:271640
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Short foot, Tapered finger	OMIM:309585
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu...	OMIM:274000
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi...	OMIM:618086
48,Xxxy Syndrome	Down-sloping shoulders, Decreased testicular size, Scoliosis, Cryptorchidism, Hip dislocation, Hy...	ORPHA:96263
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy...	OMIM:609945
Silver-Russell Syndrome	Abnormal appendicular skeleton morphology, Lower limb asymmetry, Cryptorchidism, Decreased testic...	ORPHA:813
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Scoliosis, Short thumb, Preaxial polydac...	ORPHA:90652
Acrootoocular Syndrome	Short finger, Small thenar eminence, Decreased palmar creases, Short metacarpal, Small hypothenar...	ORPHA:2980
Bardet-Biedl Syndrome 4	Cryptorchidism, External genital hypoplasia, Polydactyly, Hypogonadism, Syndactyly, Brachydactyly	OMIM:615982
Osteomesopyknosis	Increased bone mineral density, Scoliosis, Kyphosis, Sclerotic vertebral body, Abnormal form of t...	ORPHA:2777
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Scoliosis, Hip dislocation, Metaphyseal irregularity, Radial head subluxation, Kyphoscoliosis, Fl...	ORPHA:93360
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Arthrogryposis, Distal, Type 5D	Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Micrognathia, Hypoplastic la...	OMIM:615065
Pfeiffer Syndrome	Hip dysplasia, Short neck, Finger syndactyly, Synostosis of carpal bones, Clinodactyly of the 5th...	ORPHA:710
Hemochromatosis, Type 2A	Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:602390
Microphthalmia With Limb Anomalies	Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Abnormality of the upper lim...	ORPHA:1106
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect	OMIM:608681
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Hypoplasia of the ulna, Micrognathia	ORPHA:357175
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal radial head dislocation, Proximal placement of thumb, Mesomelia, Micrognathia, Aplasia/H...	OMIM:602418
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus, Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrog...	ORPHA:1788
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Micropenis, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postaxia...	OMIM:613091
3M Syndrome	Congenital hip dislocation, Abnormal metaphysis morphology, Abnormality of the elbow, Slender lon...	ORPHA:2616
Satoyoshi Syndrome	Abnormal joint morphology, Abnormality of the humerus, Hypoplasia of the ovary, Abnormal metaphys...	ORPHA:3130
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni...	OMIM:228300
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent...	OMIM:119100
Acrodysplasia Scoliosis	Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly	ORPHA:2956
Hao-Fountain Syndrome	Cryptorchidism, Hallux valgus, Micropenis, Delayed cranial suture closure, Premature adrenarche, ...	OMIM:616863
Omodysplasia 2	Short humerus, Scoliosis, Cryptorchidism, Micropenis, Dyspareunia, Dislocated radial head, Labial...	OMIM:164745
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Absent phalangeal crease, Fused thoracic vertebrae, Scoliosis, Short neck, Talipes equinovarus, F...	OMIM:618469
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplas...	ORPHA:40366
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Primary amenorrhea, Contracture of the proximal interphalangeal joint of the 5th...	ORPHA:2232
Sprengel Deformity	Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif...	OMIM:184400
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad...	OMIM:146110
Intellectual Developmental Disorder, Autosomal Recessive 35	Clinodactyly, Hypoplasia of the ulna, Micrognathia	OMIM:615162
Ritscher-Schinzel Syndrome 3	Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the fingers, Micrognathia, Ep...	OMIM:619135
49,Xxxxy Syndrome	Down-sloping shoulders, Decreased testicular size, Scoliosis, Cryptorchidism, Hip dislocation, Hy...	ORPHA:96264
Image Syndrome	Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Finger clinodactyly, ...	ORPHA:8
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor...	OMIM:618435
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Spondylometaphyseal Dysplasia, Axial	Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Short femoral neck, Narrow c...	OMIM:602271
Weaver Syndrome	Calcaneovalgus deformity, Pes cavus, Broad thumb, Single transverse palmar crease, Large hands, L...	OMIM:277590
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Thoracic dysplasia, Horizontal ribs, Cryptorchidism, Lateral clavicle hook, Postaxial polydactyly...	OMIM:615633
Muenke Syndrome	Clinodactyly, Coronal craniosynostosis, Thimble-shaped middle phalanges of hand, Capitate-hamate ...	OMIM:602849
Spondylocostal Dysostosis 3, Autosomal Recessive	Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro...	OMIM:609813
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Calcaneovalgus deformity, Pes planus, Genu recurvatum	OMIM:225320
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Increased size of the clitoris, Scoliosis, Abnormal metacarpophalangeal joint mo...	ORPHA:95699
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p...	ORPHA:93314
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Scoliosis, Cryptorchidism, Micropenis, Hypoplasia of the prostate, Scheuermann-l...	OMIM:301900
Premature Ovarian Failure 10	Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen...	OMIM:612885
Spondylocarpotarsal Synostosis Syndrome	Scoliosis, Carpal synostosis, Bowed humerus, Delayed skeletal maturation, Coxa vara, Brachydactyl...	OMIM:272460
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split h...	ORPHA:958
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Genu varum, Metaphyseal cupping, Hypoplastic scapulae, Micromelia...	ORPHA:85166
Waardenburg Syndrome, Type 3	Camptodactyly of finger, Scapular winging, Carpal synostosis, Clinodactyly, Cutaneous finger synd...	OMIM:148820
Diastrophic Dysplasia	Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joint dislocation...	ORPHA:628
Osteomesopyknosis	Infertility, Increased bone mineral density, Low back pain	OMIM:166450
Spondylocostal Dysostosis 5	Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive...	OMIM:122600
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:615842
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Osteoporosis, Small pi...	OMIM:614880
Larsen-Like Syndrome	Radial deviation of the 4th finger, Joint dislocation, Talipes equinovarus, Bipartite calcaneus, ...	OMIM:608545
Ulnar-Mammary Syndrome	Hypoplastic nipples, Short 5th finger, Hypoplasia of the radius, Anterior pituitary hypoplasia, S...	OMIM:181450
Young Syndrome	Azoospermia	OMIM:279000
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati...	ORPHA:251510
Familial Peripheral Male-Limited Precocious Puberty	Accelerated skeletal maturation, Male infertility, Long penis, Macroorchidism, Oligospermia, Prec...	ORPHA:3000
Ruvalcaba Syndrome	Delayed puberty, Limited elbow extension, Scoliosis, Cryptorchidism, Short metatarsal, Short meta...	OMIM:180870
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hyperinsulinemia, Hyperg...	ORPHA:3085
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Camptodactyly, Calcaneovalgus deformity, 11 pairs of ribs, Knee flexion contracture, Micrognathia...	OMIM:616266
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones...	OMIM:610797
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu varum, Bone pain, Osteoarthritis, Abnormal epiphysis morphology, Irregular ...	ORPHA:1822
Nievergelt Syndrome	Metatarsal synostosis, Mesomelia, Radioulnar synostosis, Radial head subluxation, Talipes equinov...	OMIM:163400
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Joint stiffness, Missing ribs, Flat acetab...	ORPHA:1801
Thoracic Dysostosis, Isolated	Short ribs, Pectus excavatum, Bell-shaped thorax	OMIM:187750
Radial Ray Hypoplasia With Choanal Atresia	Distally placed thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb	OMIM:179270
Fibular Hemimelia	Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia...	ORPHA:93323
Familial Hyperprolactinemia	Oligomenorrhea, Osteoporosis, Osteopenia, Infertility, Female hypogonadism, Menorrhagia, Amenorrh...	ORPHA:397685
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Cryptorchidism, Bilateral talipes equinovarus, Osteoporosis, Coxa valga, Patellar subluxation, Fi...	ORPHA:2958
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Short 5th finger, Short hallux, Uterus didelphys, Short 1st metacarp...	OMIM:140000
X-Linked Intellectual Disability, Hedera Type	Absent Achilles reflex, Hyporeflexia of upper limbs, Calcaneovalgus deformity, Hyporeflexia of lo...	ORPHA:93952
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Cryptorchidism, Hypogonadism, Short neck, Abnormal diaphysis morphology,...	ORPHA:3409
Roberts Syndrome	Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s...	ORPHA:3103
Aromatase Deficiency	Cryptorchidism, Primary amenorrhea, Osteoporosis, Bone pain, Osteopenia, Hypergonadotropic hypogo...	ORPHA:91
Waardenburg Syndrome Type 3	Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal finger morphology, Synostosis ...	ORPHA:896
Fetal Akinesia Deformation Sequence 4	Camptodactyly, Cryptorchidism, Short neck, Kyphosis, Rocker bottom foot, 11 pairs of ribs, Arthro...	OMIM:618393
Juberg-Hayward Syndrome	Short thumb, Abnormal finger morphology, Abnormality of the elbow, Abnormality of the wrist, Abno...	ORPHA:2319
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand	OMIM:228250
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Hypoplasia of the uterus, Abnormal rib morphology, Azoosperm...	OMIM:601076
Muenke Syndrome	Coronal craniosynostosis, Carpal synostosis, Short palm, Short foot, Tarsal synostosis, Cone-shap...	ORPHA:53271
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Hip dislocation, Joint stiffness, Finger syndactyly, Abnormality of the elbow, Synosto...	ORPHA:1005
Three M Syndrome 3	Prominent calcaneus, Hip dysplasia, Slender long bone, Clinodactyly of the 5th finger	OMIM:614205
Femoral-Facial Syndrome	Maternal diabetes, Abnormal sacrum morphology, Scoliosis, Cryptorchidism, Hip dysplasia, Abnormal...	ORPHA:1988
Multiple Epiphyseal Dysplasia Type 4	Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars...	ORPHA:93307
Acrorenal-Mandibular Syndrome	Uterus didelphys, Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot pol...	OMIM:200980
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor...	OMIM:147891
3Q13 Microdeletion Syndrome	Cryptorchidism, Joint stiffness, Short neck, Abnormality of the hand, Hypoplasia of penis, Narrow...	ORPHA:1621
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease...	OMIM:614897
Thalidomide Embryopathy	Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo...	ORPHA:3312
Intellectual Disability, Wolff Type	Camptodactyly of finger, Short distal phalanx of finger, Scoliosis, Cryptorchidism, Clinodactyly ...	ORPHA:3080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Metaphyseal cupping of proximal pha...	OMIM:300863
Poland Syndrome	Scoliosis, Abnormality of the humerus, Absent hand, Diabetes mellitus, Asymmetry of the thorax, F...	ORPHA:2911
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Cryptorchidism, Micropenis, Bilateral talipes equinovarus, Abnormality...	ORPHA:251028
Chromosome 20Q11-Q12 Deletion Syndrome	Camptodactyly, Tarsal osteovalgus, Finger clinodactyly, Adducted thumb, Brachydactyly	OMIM:614257
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Scoliosis, Ambiguous genitalia, Short metatarsal, Abnormal internal genitalia, S...	ORPHA:1772
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Ambiguous genitalia, Short neck, Proximal placement of thumb, Abn...	ORPHA:93267
Osteogenesis Imperfecta, Type Vi	Vertebral compression fracture, Protrusio acetabuli, Joint laxity, Beaking of vertebral bodies, I...	OMIM:613982
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ...	ORPHA:753
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ...	OMIM:271520
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Prieto Syndrome	Cryptorchidism, 11 pairs of ribs, Osteoporosis, Coxa valga, Patellar subluxation, Patellar disloc...	OMIM:309610
Distal Duplication 5Q	Craniosynostosis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Hypoplasia of the ulna, ...	ORPHA:96097
Subaortic Stenosis-Short Stature Syndrome	Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Bilateral single transverse palmar c...	ORPHA:3191
Thoracomelic Dysplasia	Short ribs, Bell-shaped thorax	OMIM:273740
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Calcaneovalgus deformity, Equinovarus deformity, Rocker bottom foot, ...	ORPHA:3078
Ulnar-Mammary Syndrome	Delayed puberty, Short distal phalanx of finger, Abnormality of the humerus, Absent hand, Camptod...	ORPHA:3138
Distal Limb Deficiencies-Micrognathia Syndrome	Oligodactyly, Cryptorchidism, Aplasia/Hypoplasia of the radius, Abnormality of the wrist, Aplasia...	ORPHA:1307
X-Linked Intellectual Disability, Van Esch Type	Decreased testicular size, Cryptorchidism, Coronal craniosynostosis, Retractile testis, Hypergona...	ORPHA:163976
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer...	ORPHA:90797
Polydactyly-Myopia Syndrome	Cryptorchidism, Postaxial hand polydactyly	ORPHA:2917
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular vertebral endplates...	OMIM:226980
Microcephaly, Short Stature, And Limb Abnormalities	Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino...	OMIM:617604
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ...	OMIM:184253
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Delayed ossification of carpal bones, Kyphosis, Brachydactyly	OMIM:618392
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Scoliosis, Primary amenorrhea, Ambigu...	OMIM:201750
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped...	OMIM:300106
Larsen Syndrome	Elbow dislocation, Cryptorchidism, Hip dislocation, Vertebral fusion, Spatulate thumbs, Multiple ...	OMIM:150250
Fatco Syndrome	Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology...	ORPHA:2492
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Scoliosis, Cryptorchidism, Short neck, Kyphosis, Bell-shaped thorax, Single ...	ORPHA:178148
Classical-Like Ehlers-Danlos Syndrome Type 2	Pes planus, Cryptorchidism, Hip dislocation, Hallux valgus, Abnormal toe morphology, Joint disloc...	ORPHA:536532
Fanconi Anemia, Complementation Group O	Small thenar eminence, Cryptorchidism, Short thumb, Proximal placement of thumb, External genital...	OMIM:613390
Carpenter Syndrome	Craniosynostosis, Cryptorchidism, External genital hypoplasia, Polydactyly, Finger syndactyly, Sy...	ORPHA:65759
Apert Syndrome	Broad thumb, Vaginal atresia, Preaxial hand polydactyly, Sagittal craniosynostosis, Cutaneous fin...	OMIM:101200
Metatropic Dysplasia	Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Joint stiffness,...	ORPHA:2635
X-Linked Intellectual Disability, Cilliers Type	Decreased testicular size, Cryptorchidism, Coronal craniosynostosis, Hypergonadotropic hypogonadi...	ORPHA:163971
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Bowed humerus, Short 1st metacarpal, Short sternum, Short lower limbs, Mi...	OMIM:620076
Jackson-Weiss Syndrome	Craniosynostosis, Broad metatarsal, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis...	OMIM:123150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati...	OMIM:300845
Laurin-Sandrow Syndrome	Limb duplication, Cryptorchidism, Absent radius, Absent tibia, Finger syndactyly, Abnormality of ...	ORPHA:2378
Martsolf Syndrome 1	Short toe, Thoracic scoliosis, Short phalanx of finger, Osteopathia striata, Cryptorchidism, Micr...	OMIM:212720
Three M Syndrome 2	Slender long bone, Scapular winging, Prominent calcaneus, Short 5th finger, Clinodactyly	OMIM:612921
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala...	OMIM:135750
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Cryptorchidism, Short thumb, Joint contracture of the 5th fing...	OMIM:194350
Mosaic Trisomy 14	Camptodactyly of finger, Cryptorchidism, Short neck, Hypoplasia of penis, Abnormal rib morphology...	ORPHA:1703
Spermatogenic Failure, X-Linked, 4	Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M...	OMIM:301077
Ovarian Dysgenesis 3	Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, ...	OMIM:614324
Chromosome 2P16.1-P15 Deletion Syndrome	Camptodactyly, Cryptorchidism, Decreased testicular size, Micropenis, Hypogonadism, Calcaneovalgu...	OMIM:612513
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Bilateral talipes equinovarus, Fle...	ORPHA:319332
Trisomy 4P	Camptodactyly of finger, Scoliosis, Cryptorchidism, Radial club hand, Short neck, Preaxial hand p...	ORPHA:1738
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Short metacarpal, Short thumb, Delayed skeletal maturation	ORPHA:2489
Testicular Anomalies With Or Without Congenital Heart Disease	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, A...	OMIM:615542
Tetralogy Of Fallot	Brachydactyly, Cryptorchidism, Clinodactyly of the 5th finger	ORPHA:3303
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Cubitus val...	OMIM:608154
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Kyphosis, Abnormal rib morphology, Narrow chest, Accelerated skel...	ORPHA:1354
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ver...	ORPHA:2790
Autosomal Dominant Spondylocostal Dysostosis	Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri...	ORPHA:1797
Van Den Ende-Gupta Syndrome	Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hallux valgus, Knee flexion con...	OMIM:600920
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Toe syndactyly, Broad thumb, ...	ORPHA:1507
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Madelung deformity, Limited pronation/supination of forearm, Radial bowing	DECIPHER:58
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Dislocated radial head, Knee flexion contra...	ORPHA:166016
Atelosteogenesis, Type I	Clubbing, Long clavicles, Short metatarsal, Multinucleated giant chondrocytes in epiphyseal carti...	OMIM:108720
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Scoliosis, Ulnar deviation of finger, Joint stiffness, Short neck, ...	ORPHA:1147
Adrenal Hypoplasia, Congenital	Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea...	OMIM:300200
Multiple Osteochondromas	Femoroacetabular impingement, Deformed forearm bones, Abnormal morphology of ulna, Short lower li...	ORPHA:321
Desbuquois Dysplasia 1	Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A...	OMIM:251450
Eiken Syndrome	Epiphyseal dysplasia, Abnormal bone ossification, Abnormal fingertip morphology, Delayed epiphyse...	ORPHA:79106
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hand polydactyly, Early ossification of capital femoral epiphyses, Pancreatic fibrosis, Short rib...	OMIM:208500
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome

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