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Gene: Acd MGI:87873

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adrenocortical dysplasia

Synonyms:

N/A

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 Acd 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 Acd (3 diseases)
Human diseases predicted to be associated with Acd (733 diseases)

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

Disease	Matching phenotypes	Source
Familial Melanoma	Abnormal hair morphology, Freckling, Neoplasm of the pancreas	ORPHA:618
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Dyskeratosis Congenita, Autosomal Dominant 6	Nail dystrophy	OMIM:616553

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

Disease	Matching phenotypes	Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Ri...	ORPHA:2251
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Crandall Syndrome	Alopecia, Brittle hair, Hypoplasia of penis, Sensorineural hearing impairment, Fine hair, Hypogon...	ORPHA:202
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas...	OMIM:610600
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Ectodermal Dysplasia, Trichoodontoonychial Type	Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,...	ORPHA:1818
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair	ORPHA:85274
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Long eyebrow...	OMIM:275400
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Nail dystrophy, Spa...	OMIM:618625
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly, Fragile nails, Hearing impairment, Fine hair	ORPHA:500166
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Melanocytic nevus, Fre...	ORPHA:1573
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Increased circulating r...	ORPHA:556037
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Brachydactyly, Single transverse palmar crease, Abnormality of hair...	OMIM:601957
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's peak, Sparse hair...	OMIM:606242
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernume...	ORPHA:1433
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse...	ORPHA:113
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Increased circulating r...	ORPHA:556030
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair, Protruding ear	OMIM:278200
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin...	ORPHA:3363
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Melanocytic nevus, Dystro...	ORPHA:1882
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Abnormality of the hand, Slow-growing...	OMIM:129500
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ...	ORPHA:3082
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:616950
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp...	OMIM:104100
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level	OMIM:202150
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Deep-set nails, Hypoplasia of penis, Sandal...	ORPHA:3447
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Bardet-Biedl Syndrome 5	Syndactyly, Hypogonadism, Polydactyly, Micropenis, Brachydactyly	OMIM:615983
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Small hand, Short foot, Hypogonadism, Sparse body hair	ORPHA:261483
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Short...	ORPHA:1264
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cutaneous sy...	ORPHA:2890
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst...	ORPHA:79402
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Hearing impairment, Split hand, Macr...	ORPHA:2850
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Hypothyr...	ORPHA:2118
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism, Sensorineural hearing impairment	ORPHA:2574
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism, Sensorineural hearing impairment	ORPHA:123
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly	OMIM:619692
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:108420
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly	OMIM:615988
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Fg Syndrome 3	Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hai...	OMIM:300406
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Aredyld	Generalized hypotrichosis	OMIM:207780
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Low posterior hairline, A...	ORPHA:2183
Lessel-Kubisch Syndrome	Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism	OMIM:618681
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail...	ORPHA:2228
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Nicolaides-Baraitser Syndrome	Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ...	ORPHA:3051
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, Low-set ears, Sparse hair	OMIM:615278
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Ectrod...	ORPHA:1897
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha...	OMIM:262000
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Polydactyly	OMIM:615990
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Coxa valga, Elbow dislocation, Abnorm...	ORPHA:1425
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Conductive hearing impairm...	ORPHA:2316
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Fine hair, Talipes equinovarus, ...	ORPHA:251019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Sensorineural hearing impairment, Coarse h...	ORPHA:1883
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m...	ORPHA:1807
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Palmoplantar keratoderma, Woolly hair	ORPHA:34217
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Decreased fertility, N...	OMIM:234050
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Postaxial hand polydactyly, Abnormality of the...	ORPHA:75389
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Mul...	ORPHA:163654
Acrogeria	Short foot, Irregular hyperpigmentation, Small hand, Fine hair	ORPHA:2500
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, S...	ORPHA:1660
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Hypospadias, Hyperpigmentation of the skin, Renal salt wast...	ORPHA:90791
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Macrotia, Palmoplantar keratoderma	OMIM:613576
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	High-frequency sensorineural hearing impairment, Sparse scalp hair, Single transverse palmar crea...	ORPHA:2324
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Palmoplantar keratoderma, Onycholysis, Nail dystroph...	OMIM:224750
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Nail pits, Fine ha...	ORPHA:978
Joubert Syndrome 10	Low-set ears, Hirsutism, Postaxial polydactyly	OMIM:300804
Polydactyly, Postaxial, Type A8	Nail dysplasia, Postaxial polydactyly, Genu valgum	OMIM:618123
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Protrudi...	OMIM:190351
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st...	OMIM:620103
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, A...	ORPHA:369929
Bardet-Biedl Syndrome 16	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Hypogonadism, Heari...	OMIM:615993
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Bardet-Biedl Syndrome 4	Syndactyly, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Brachydactyly	OMIM:615982
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Hyperpigmentation of the skin, Bilateral single transverse palmar creases	ORPHA:50812
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger...	OMIM:272440
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly	OMIM:615984
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypopl...	ORPHA:181
Gand Syndrome	Long toe, Long fingers, Sparse hair	OMIM:615074
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Low anterior ha...	OMIM:618569
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Elbow dislocation, Conductive hearing impairment, Fine hair, Aplasia/Hypoplasia of the middle ear...	ORPHA:3236
Leopard Syndrome 2	Curly hair, Multiple lentigines, Low-set ears, Cubitus valgus, Cafe-au-lait spot	OMIM:611554
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Sparse hair, Hypopigmentation of...	OMIM:309400
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Abnormal diaphysis ...	ORPHA:1515
Suleiman-El-Hattab Syndrome	Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal hirsutism, Hearing...	OMIM:618950
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ...	OMIM:300869
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairli...	OMIM:613224
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Swelling...	OMIM:190350
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Tapered finger, Hypoplas...	ORPHA:2930
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na...	ORPHA:140936
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Small hand, Talipes equinovar...	OMIM:619980
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Tapered finger, Cryptorchidism, Short toe, Large earlobe, Hypogonadism, Spar...	ORPHA:127
Noonan Syndrome 5	Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Multiple lentigines, Low-set ears, Small n...	OMIM:611553
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Concave nail, Cryptorchidism, Blue irides, Fine hair, Sma...	OMIM:300978
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Sparse eyebrow, Metaphyseal chondrodys...	OMIM:250410
Giant Axonal Neuropathy	Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ...	ORPHA:643
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair, Sensorineural hearing impairment, Genu valgum, Slender ...	OMIM:608154
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Abnormality of the thyroid gland, Decreased fertility, Hypogonadism, Abnorma...	ORPHA:2234
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Synophrys, Abnormality of the...	ORPHA:3253
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, Palmo...	OMIM:604536
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Sy...	ORPHA:313781
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Dysmenorrhea, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyl...	ORPHA:397590
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Posteriorly rotated ears, Sensorineural hearing impairment, L...	OMIM:613707
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Avascular necrosis of the capital fe...	ORPHA:77258
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Supernumerary nipple,...	ORPHA:217346
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi...	ORPHA:634
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Brittle hair, Abnormal hair morphology, Abnormality of the nai...	ORPHA:2963
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Posteriorly rotated ears, Low anterior hairline, Hirsutism, Protruding ear, Long eyelashes, Low-s...	OMIM:616819
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Broad palm, Secondary amenor...	OMIM:268020
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Sp...	OMIM:618535
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h...	ORPHA:2221
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Cryptorchidism, Sensorineural hearing impairment, Renal hypoplasia, Fine ...	OMIM:616817
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Coxa valga, Bilateral sensorineural hearing impairment, Tiger ta...	OMIM:616943
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Renal insufficiency, Postaxial polydactyly, ...	OMIM:615986
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Posteriorly rotated ears, Small hand, Low anterior hairline,...	ORPHA:1787
Blepharocheilodontic Syndrome 1	High anterior hairline, Cutaneous syndactyly, Small nail, Nail dysplasia, Sparse hair, Clinodacty...	OMIM:119580
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ...	OMIM:300953
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Renal hypoplasia, ...	OMIM:616854
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Joubert Syndrome 37	Decreased testicular size, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Low-s...	OMIM:619185
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Apl...	ORPHA:2232
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi...	OMIM:615996
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Alopecia, Abnormality of the elbow, Hip dis...	ORPHA:1005
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair	OMIM:273400
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Conductive hearing impairment, Sparse body hair, Aplasi...	ORPHA:1006
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Protruding ear, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Down-sloping shoulders, Deviation of the 5th toe, Synophrys, Sensorineural hea...	ORPHA:391408
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Unila...	OMIM:618142
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia...	OMIM:615994
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Widow's peak, Fine hair, Horizontal eyebrow, Prominent fingertip pads	OMIM:615828
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Intellectual Developmental Disorder, Autosomal Dominant 65	Posteriorly rotated ears, Single transverse palmar crease, Synophrys, Low posterior hairline, Sho...	OMIM:619320
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Aplasia/Hypoplasia of the earlobes, Renal hy...	ORPHA:1745
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Synophrys, Widow...	OMIM:620072
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyl...	OMIM:619721
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia...	OMIM:617927
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Protruding ear, Fragile nails, Hypogonadism, Nail dystrop...	OMIM:601675
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,...	ORPHA:3353
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Fine hair, Long eyelashes, Clinodactyly of the 5th finger, High anterio...	ORPHA:231137
Ruijs-Aalfs Syndrome	Down-sloping shoulders, Single transverse palmar crease, Elbow flexion contracture, Premature gra...	OMIM:616200
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Hypospadias, Postaxial polydactyly, Synophrys, Low anterior hairline, Broad distal ph...	OMIM:615761
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Hypoplastic fingernail, Abnormal pinna morphology, Cryptorchid...	ORPHA:1912
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, 2-3 toe ...	OMIM:106260
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Tapered finger, Small hand, 2-3 toe syndactyly, Polycystic ovaries, Sparse hair, ...	ORPHA:284180
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair p...	ORPHA:1786
Adrenomyeloneuropathy	Urinary incontinence, Frontal balding, Primary adrenal insufficiency, Fine hair, Abnormality of s...	ORPHA:139399
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Rapp-Hodgkin Syndrome	Syndactyly, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hearing impairment, Sparse...	OMIM:129400
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Single transverse palmar crease, Highly arched eyebrow, Conductive hearing impairme...	OMIM:617412
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Nevus Comedonicus Syndrome	Abnormal hair morphology, Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic ki...	OMIM:608612
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst...	ORPHA:90796
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus	ORPHA:2301
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Decreased urinary sulfate, Macrotia	OMIM:272300
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, 2-3 toe syndactyly, Short foot, Coarse hair, Hearing impairment	OMIM:616351
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Posteriorly rotated ears, Hearing impairment, Patchy alopecia, Broad distal phalanx of finger, Lo...	OMIM:617763
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Scarring alop...	ORPHA:35173
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abno...	ORPHA:177
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Posteriorly rotated ears, Diabetes mellitus, Short m...	OMIM:614813
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Avascular necrosis of the capital femoral epiphysis, Reticulated sk...	OMIM:613990
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy	OMIM:616353
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplasti...	OMIM:616910
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Low-set ears, Sparse eyebrow, Hearing impairment	OMIM:619989
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Coarse hair, Abnormal epiphysis morphology, Limb undergrowth, Abno...	ORPHA:2107
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadism, Delayed puberty	ORPHA:141333
Aredyld Syndrome	Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal pelvic girdle bone morphol...	ORPHA:1133
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Anteverted ears, Sparse hair, Clinodactyly, Hirsutism	OMIM:618087
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumera...	ORPHA:1071
Shukla-Vernon Syndrome	Sparse hair, Long fingers, Tapered finger	OMIM:301029
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Single transverse palmar crease, Sparse eyebrow, Synophrys, Sensorineural hearing imp...	OMIM:620075
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, 2-3 toe syndactyly...	OMIM:614099
Costello Syndrome	Low-set, posteriorly rotated ears, Deep-set nails, Generalized hyperpigmentation, Abnormal finger...	ORPHA:3071
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Multicystic kidney dysplasia, Hypoplastic ilia, Cryptorchidis...	ORPHA:85201
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Protruding ear, Abnormality of skin pigmentation, Fine hair, Spar...	ORPHA:1806
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Sparse facial hair, Sparse eyelashes, Sparse eyebrow, Metaphyseal widening...	OMIM:250250
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Short proximal phalanx of finger, Cryptorchidism, Deep palmar crease, Caf...	OMIM:616638
Noonan Syndrome 8	Curly hair, Cryptorchidism, Low-set ears, Palmoplantar cutis laxa, Hyperpigmentation of the skin	OMIM:615355
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlo...	ORPHA:2637
Oculodentodigital Dysplasia	Brittle hair, Conductive hearing impairment, Sparse hair, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Low anterior hairline, Sparse hair, Small earlobe, Micropenis, S...	OMIM:608156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Sparse hair, Low-set ears, Toe clinodactyly, Clinodactyly of the 5th finger	OMIM:619910
Androgen Insensitivity Syndrome	Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ...	OMIM:300068
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Arachnodactyly, Hypospadias, Abnormality of hair ...	ORPHA:96169
Cardiofaciocutaneous Syndrome	Brittle hair, Thickened helices, Sparse hair, Dystrophic fingernails, Low-set, posteriorly rotate...	ORPHA:1340
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:617119
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa...	OMIM:615962
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Sparse hair, Micropenis, Hearing impairment	OMIM:610756
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Hematuria, Fine hair	ORPHA:1839
Trisomy 20P	Low anterior hairline, Protruding ear, Coarse hair, Low-set, posteriorly rotated ears, Finger syn...	ORPHA:261318
Orofaciodigital Syndrome Type 3	Abnormality of hair texture, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxia...	ORPHA:2752
46,Xx Gonadal Dysgenesis	Streak ovary, Arachnodactyly, Premature ovarian insufficiency, Sparse pubic hair, Increased circu...	ORPHA:243
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, Rock...	OMIM:272950
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Protruding ear, Sparse hair, Talipes e...	OMIM:617988
Noonan Syndrome 4	Curly hair, Ureteral duplication, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Blue ...	OMIM:610733
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Single transverse palmar crease, Proteinuria, Glomerulonephritis, Synophrys, Hip dis...	OMIM:619428
Rodrigues Blindness	Sparse hair, Protruding ear, Fine hair	OMIM:268320
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, Clinodactyly of the 5th ...	OMIM:181270
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Broad hallux, Single transverse palmar crease, Retinal pi...	OMIM:614105
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Olmsted Syndrome 2	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Sparse hair, Woolly hair, Alopecia univers...	OMIM:619208
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A...	OMIM:268400
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, 4-5 toe syndactyly, Thick eyebrow, Synophrys	OMIM:611091
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Mandibuloacral Dysplasia	Alopecia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormality of skin pigmentation...	ORPHA:2457
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian car...	OMIM:617883
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 finger syndacty...	OMIM:257850
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Long fingers, Vesicoureteral reflux, L...	OMIM:613174
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Low-set ears	ORPHA:228390
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Posteriorly rotated ears, Protruding ear, Low-set ears, Sparse hair, Simple ear	OMIM:620001
Hamamy Syndrome	Long toe, Syndactyly, Hypoparathyroidism, Sparse eyelashes, Down-sloping shoulders, Tapered finge...	OMIM:611174
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Palmoplantar hyperhidrosis	OMIM:270300
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, E...	OMIM:302960
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Protruding ear, Ab...	ORPHA:3068
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Hypermelanotic macule, Bilateral cryptorchidism, Elevated circu...	OMIM:242900
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Abnormal pelvic girdle bone m...	ORPHA:3079
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Palmar telangiec...	ORPHA:69735
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Noonan Syndrome 14	Curly hair, Scapular winging, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low poste...	OMIM:619745
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Ritscher-Schinzel Syndrome 4	Curly hair, Ulnar deviation of the hand, Tapered finger, Cryptorchidism, Narrow palm, Hip disloca...	OMIM:619435
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Sparse hair, Clinodactyly of the 5t...	ORPHA:3103
Papillon-Lefèvre Syndrome	Arachnodactyly, Abnormal fingernail morphology, Hypopigmented skin patches, Palmoplantar hyperker...	ORPHA:678
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Periorbital hyperpigmentation, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryptorchidism, Cutaneous finger ...	OMIM:613026
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Clubbing of fingers, Pal...	OMIM:605676
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot	ORPHA:457485
Koolen-De Vries Syndrome	Abnormality of hair texture, Anteverted ears, Cryptorchidism, Macrotia, Hypotrophy of the small h...	OMIM:610443
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Hypothyroidism, Short phalanx of ...	ORPHA:221008
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism, Hearing impairment	OMIM:252920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Broad hallux, Cryptorchidism, Small hand, Tibial bowing, Short foot, F...	ORPHA:251028
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered finger, Cryptorchidism, Sy...	OMIM:613792
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Cond...	OMIM:129900
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Hydroureter, Cryptorchidism	OMIM:616559
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hip dysplasi...	OMIM:616362
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Cryptorchidism, Hip dislocation, Talipes equinovarus, Low-set ears, S...	OMIM:219150
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Shortening of al...	OMIM:616202
Olmsted Syndrome 1	Subungual hyperkeratosis, Autoamputation of digits, Palmoplantar keratoderma, Nail dystrophy, Nai...	OMIM:614594
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Congenital hip dislocation, Abnormality of hair texture, Coarse hair, Low-set ears	OMIM:219200
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Laurence-Moon Syndrome	Pigmentary retinopathy, Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Leukonychia, Palmoplantar keratoderma, Nail dystrophy, Woolly hair, Fragile nails	OMIM:615821
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ...	OMIM:241080
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Arachnodactyly, Homocystinuria, Methioninuria, Hypopigmentation of the skin	OMIM:236200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Low-set ears, Woolly hai...	OMIM:619244
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Abnormal fibula morphology...	ORPHA:1812
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Sup...	ORPHA:261349
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Craniolenticulosutural Dysplasia	Brittle hair, High iliac wing, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperp...	ORPHA:50814
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism, Hearing impairment	OMIM:252900
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Thick hair, Onychauxis, Precocious puberty, Insulin-re...	ORPHA:769
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Synophrys, Hypertrichosis, Coarse hair, Hirsutism, Hearing im...	OMIM:252930
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Protruding ear	ORPHA:231140
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hypospadias, Cryptorchidism, Sensorine...	OMIM:305450
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Palmoplantar hyp...	OMIM:257980
Orofaciodigital Syndrome Type 1	Brittle hair, Coarse hair, Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Alopec...	ORPHA:2750
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Coar...	ORPHA:585
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Thi...	OMIM:614800
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Split hand, Absen...	ORPHA:974
Chops Syndrome	Curly hair, Thick hair, Hearing impairment, Cryptorchidism, Synophrys, Vesicoureteral reflux, Hor...	OMIM:616368
Bathing Suit Ichthyosis	Alopecia, Autoamputation of digits, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair	ORPHA:100976
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Synophrys, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impairment	OMIM:620250
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin...	OMIM:268130
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Low-set ears...	OMIM:607131
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th...	OMIM:612394
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilat...	OMIM:304110
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Blotching pigmentation of the ski...	OMIM:601559
Adult Syndrome	Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Na...	OMIM:103285
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinop...	OMIM:605231
Spinocerebellar Ataxia-Dysmorphism Syndrome	Cubitus valgus, Slender long bone, Coarse hair, Low-set, posteriorly rotated ears	ORPHA:1185
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Postaxial polydactyly	OMIM:615985
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Brittle ...	OMIM:305600
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Down-sloping sho...	ORPHA:1974
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:619603
Ogden Syndrome	Broad hallux, Cryptorchidism, Fine hair, Low-set ears, Macrotia, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Noonan Syndrome 7	Curly hair, Low posterior hairline, Large earlobe, Deep palmar crease, Low-set ears, Thickened he...	OMIM:613706
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Hypospadias, Long fingers, Fine hair, Broad distal phalanx of finger	ORPHA:363686
Lamellar Ichthyosis	Renal insufficiency, Abnormal helix morphology, Sparse hair, Abnormality of the nail, Aplasia/Hyp...	ORPHA:313
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Postaxial polydactyly	OMIM:614500
Trichothiodystrophy 3, Photosensitive	Brittle hair, Bilateral cryptorchidism, Low-set ears, Tiger tail banding, Trichorrhexis nodosa, H...	OMIM:616395
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Metaphyseal widening, Synophrys, Clubbing, Low anterior hairline, Enlarged kidney, L...	OMIM:617303
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Single transverse palmar crease, Decreased response to growth hormone stimulation tes...	OMIM:614114
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hair, Posterior...	OMIM:115150
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Hypospadias, Avascular necrosis of the capital femoral epiphysis, Fine ...	OMIM:222470
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Sparse eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the patella, Sp...	ORPHA:2909
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Posteriorly rotated ears, Cryptorchidism, Deep palmar crease, Loos...	OMIM:607721
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormal hair patte...	ORPHA:920
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Bone spicule pigmentation of the retina, Diabetes mellitus...	OMIM:209900
Gorlin-Chaudhry-Moss Syndrome	Low anterior hairline, Coarse hair, Abnormal metacarpal morphology, Conductive hearing impairment...	ORPHA:2095
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Conductive hearing impairment, Decreased ...	ORPHA:870
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Abnormal pinna morphology, Hypospadias, Postaxial polydactyly, Posta...	OMIM:614175
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Protruding ear, Tubulointerstitial nephritis, Sparse hair, Rhizo...	OMIM:218330
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Oculodentodigital Dysplasia	Dry hair, Neurogenic bladder, Slow-growing hair, Abnormal pinna morphology, Conductive hearing im...	OMIM:164200
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Talipes equinovarus	OMIM:256850
Scarf Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Perineal hypospadias, ...	ORPHA:3134
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Doors Syndrome	Adrenal hyperplasia, Abnormal finger morphology, Low anterior hairline, Nephrocalcinosis, Absent ...	ORPHA:79500
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Low-set ears, Enlarged kidney	OMIM:613885
Cutis Laxa, Autosomal Recessive, Type Iiib	Posteriorly rotated ears, Prominent ear helix, Cryptorchidism, Elbow flexion contracture, Hip dis...	OMIM:614438
3Mc Syndrome 3	Abnormal pinna morphology, Highly arched eyebrow, Cryptorchidism, Preaxial polydactyly, Horseshoe...	OMIM:248340
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Coxa valga, Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubul...	ORPHA:85184
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Short metacarpal, Hyperpigmentation of the skin, Aplasia/hypoplasia...	ORPHA:221016
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta...	OMIM:614815
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Large earlobe	OMIM:602501
Complete Androgen Insensitivity Syndrome	Male infertility, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pu...	ORPHA:99429
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Synostosis of carpal bones, Low-set, pos...	ORPHA:221120
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Cupped ear, Protruding ear, Nail dystrophy	ORPHA:93947
Tarp Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre...	ORPHA:2886
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Trichohepatoneurodevelopmental Syndrome	Curly hair, Overlapping toe, Cholelithiasis, Woolly hair, Synophrys, Hip dislocation, Short foot,...	OMIM:618268
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Small ha...	ORPHA:2108
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Posteriorly rotated ears, Highly arched eyebrow, Overfolded helix, Low posterior hair...	OMIM:617360
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Posteriorly rotated ears, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Fine hai...	OMIM:613563
Joubert Syndrome 16	Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Scarf Syndrome	Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Low posterior hairline, Perineal...	OMIM:312830
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the ...	ORPHA:96149
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf...	ORPHA:1010
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, 2-3 toe synd...	ORPHA:404440
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Low-set ...	OMIM:258860
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fing...	ORPHA:1775
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc...	OMIM:309350
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia, Hypospadias, Postaxial polydactyly	ORPHA:544254
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Epiphyseal stippling, Coarse hair, Talipes equinovarus, Sparse hair	OMIM:118650
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Sparse hair, Clinodactyly o...	ORPHA:2636
Noonan Syndrome	Abnormal hair quantity, Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Thicken...	ORPHA:648
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Thickened helices, Highly arched eyebrow, Posteriorly rotated ears...	OMIM:617506
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Low-set, poster...	ORPHA:175
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Posteriorly rotated ears, Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finge...	OMIM:300968
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Palmoplantar keratode...	ORPHA:659
Short Syndrome	Alopecia, Diabetes mellitus, Sensorineural hearing impairment, Short palm, Sparse hair, Brachydac...	ORPHA:3163
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Metaphyseal sclerosis, Genu valgum, Premature graying of hair, Fine hai...	OMIM:612199
Mucolipidosis Ii Alpha/Beta	Brittle hair, Metaphyseal widening, Sparse hair, Hypopigmentation of the skin, Sparse eyebrow, Sp...	OMIM:252500
Noonan Syndrome 2	Curly hair, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Low...	OMIM:605275
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Micropenis, Brittle hair, Hydrocele testis	OMIM:618810
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair	OMIM:256500
Septooptic Dysplasia	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly...	OMIM:182230
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi...	OMIM:604292
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Cryptorchidism, Synophrys, Sensorineural hearing impairment, Proximal rena...	OMIM:615824
Macs Syndrome	Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crease, Sparse eyebrow, Crypto...	OMIM:613075
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Bainbridge-Ropers Syndrome	Thick eyebrow, Ulnar deviation of the hand, Arachnodactyly, Posteriorly rotated ears, Highly arch...	OMIM:615485
Adnp Syndrome	Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinenc...	ORPHA:404448
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Sensorineural heari...	OMIM:616541
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Du...	OMIM:236680
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Pancreatic steatosis, Cryptorchidism, Cupped e...	OMIM:617052
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Metatarsus adductus, Heparan sulfate excretion in urine, Sensorineural hearing imp...	OMIM:253220
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sensorineural hearing impairment, Palmoplantar keratoderma, Sparse hair, Fragile nails	OMIM:242150
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Low-set ears, Palmoplantar cutis laxa, Cubitus valgus...	OMIM:616564
Orofaciodigital Syndrome I	Syndactyly, Dry hair, Alopecia, Proteinuria, Hearing impairment, Pancreatic cysts, Short 2nd toe,...	OMIM:311200
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Posteriorly rotated ears, Proximal placement of thumb, Coxa valga, Sensorineural h...	OMIM:212066
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct p...	OMIM:607361
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Abnormality of hair texture, Hypophosphaturia, Synophrys, Abnormality of dermal...	ORPHA:73223
Craniolenticulosutural Dysplasia	Brittle hair, Cryptorchidism, High iliac wing, Coarse hair, Forehead hyperpigmentation, Sparse ha...	OMIM:607812
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Fine hair, Slend...	ORPHA:444072
Marshall-Smith Syndrome	Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Cli...	OMIM:602535
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Tapered finger, Synophrys, Increased femoral anteversion, Small hand, Vesi...	OMIM:609460
Mucoepithelial Dysplasia, Hereditary	Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n...	OMIM:158310
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Low-set ...	OMIM:613451
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Abnormal fingernail morphology, Underdeveloped antitragus, Pyelonephritis, ...	ORPHA:2036
Naxos Disease	Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Diffuse palmoplantar hyperkeratosis, Palmop...	OMIM:601214
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Joubert Syndrome 7	Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge...	OMIM:611560
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Single transverse palmar crease, Uplifted earlobe, 2-3 toe syndactyly, Low-set ears,...	OMIM:616449
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Renal hypoplasia, Hypoplasia of the thymus, Polycystic ki...	ORPHA:84064
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa...	ORPHA:96123
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Hypopituitarism, Nail dystrophy	ORPHA:98813
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Conductiv...	ORPHA:444077
Tarp Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact...	OMIM:311900
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Polydactyly	OMIM:613464
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Anterior pituitary hypoplasia, ...	OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Curly hair, Arachnodactyly	OMIM:300986
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Bila...	ORPHA:2754
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, White hair, Long fibula, Fine hair	ORPHA:935
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Posteriorly rotated ears, Long eyelashes, Talipes equinov...	OMIM:612313
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Clubbing,...	ORPHA:33364
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thick eyebrow, Heparan sulfate excretion in urine, Synophrys, Elbow flexion...	OMIM:252940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Reticular hyperpigmentation, Nail pits, Premature graying of hair, Nail dy...	OMIM:127550
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Hypospadias	OMIM:618253
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Conductive hearing impairment, Sparse hair, Clinod...	OMIM:280000
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Chordee, Dysgerminoma	OMIM:613762
Joubert Syndrome 23	Sensorineural hearing impairment, Polydactyly	OMIM:616490
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Bile duct proliferation, Sparse hair	OMIM:607626
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypogonadism, Abnormality of hair texture, Adducted thumb	ORPHA:79351
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Hypospadias, Short long bone, Short palm, Brachydactyly	OMIM:619184
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Thickened helices, Talipes cavus equinovarus, Synophrys, Prominent protruding coccyx, Protruding ...	OMIM:300966
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Cockayne Syndrome A	Hip contracture, Dry hair, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal ...	OMIM:216400
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Fine hair, Chordee, Type II diabetes mellitus, Delayed puberty, Sparse...	OMIM:618891
Myhre Syndrome	Thick eyebrow, Overlapping toe, Hearing impairment, Cryptorchidism, Short toe, 2-3 toe syndactyly...	OMIM:139210
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Macrocephaly/Autism Syndrome	Hydrocele testis, Coarse hair, Penile freckling	OMIM:605309
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly	OMIM:613819
Congenital Sialidosis Type 2	Hearing impairment, Polydactyly, Low-set ears, Generalized hypertrichosis	ORPHA:93400
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Nephronophthisis	OMIM:614464
Osteogenesis Imperfecta, Type Xx	Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Sparse hair, Crumpled ear, Sparse ...	OMIM:618644
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Coar...	ORPHA:1394
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Po...	OMIM:277170
Hawkinsinuria	Sparse hair, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar...	ORPHA:85138
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared iliac bones, Preaxial ...	OMIM:616300
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Low anterior hair...	OMIM:180849
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Low-se...	OMIM:617895
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact...	OMIM:617527
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Hypoplastic fingernail,...	OMIM:200110
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fibular ...	OMIM:619297
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda...	OMIM:603194
Cardioacrofacial Dysplasia 1	Limb undergrowth, Nail dysplasia, Postaxial polydactyly, Genu valgum	OMIM:619142
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Clin...	OMIM:135900
Mend Syndrome	Crossed fused renal ectopia, Overlapping toe, Broad hallux, Posteriorly rotated ears, Long finger...	OMIM:300960
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Anterior p...	ORPHA:464306
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Renal insufficiency, Abnormal acetabulum morphology, Hypospadi...	ORPHA:397715
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone...	OMIM:601812
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal pinna morphology, Tarsal synostosis, Short hallux, Camptodacty...	ORPHA:90652
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Thick hair, Coarse hair, Low-set ears, Sparse hair	ORPHA:357074
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Finger clinodactyly, Premature graying of hair, Sh...	ORPHA:79474
Cockayne Syndrome B	Dry hair, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked p...	OMIM:133540
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormality of the hand, Sparse eyebrow, Cryptorchidism, Met...	OMIM:234100
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Urolithiasis,...	OMIM:300661
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Abnormal...	OMIM:619488
Occipital Horn Syndrome	Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa...	ORPHA:198
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Ovarian gonadoblast...	ORPHA:251510
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism...	OMIM:615849
Intellectual Developmental Disorder, Autosomal Dominant 68	Broad hallux, Posteriorly rotated ears, Urinary incontinence, Narrow palm, 2-3 toe syndactyly, Jo...	OMIM:619934
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Lateral Meningocele Syndrome	Neurogenic bladder, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchid...	OMIM:130720
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In...	OMIM:110100
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Abnormal fingernai...	ORPHA:955
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Low-set, posteriorly rot...	ORPHA:672
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Conductive hearing impairment, Severe sensorineural hearing impa...	OMIM:620186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Low-set, posteriorly rotated ears, Tapered finger, Abnormal circulati...	ORPHA:480880
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hip dysplasia, Polydactyly, Hydronephrosis	ORPHA:531151
Joubert Syndrome 14	Posteriorly rotated ears, Highly arched eyebrow, Postaxial polydactyly, Renal cyst, Low-set ears	OMIM:614424
Familial Melanoma	Abnormal hair morphology, Freckling, Neoplasm of the pancreas	ORPHA:618
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe, Anterior pituitary hy...	OMIM:619841
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Low anterior hai...	OMIM:614976
Renpenning Syndrome 1	Brittle hair, Hypospadias, Hearing impairment, Phimosis, Macrotia, Cupped ear, Renal hypoplasia, ...	OMIM:309500
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Joubert Syndrome 27	Polydactyly	OMIM:617120
White-Sutton Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Bilateral sensorineural hearing impai...	OMIM:616364
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Protruding ear, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Thick hair, Thickened helices, Abnormality of the middle ear ossicles, ...	ORPHA:581
Noonan Syndrome 1	Male infertility, Hypospadias, Hearing impairment, Woolly hair, Sensorineural hearing impairment,...	OMIM:163950
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Long palm, Single transverse palmar crease, Abnormal pinna morphology...	OMIM:244450
De Barsy Syndrome	Congenital hip dislocation, Cryptorchidism, Coxa vara, Large earlobe, Talipes equinovarus, Bilate...	ORPHA:2962
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Uplifted earl...	OMIM:613406
Kid Syndrome	Sparse eyelashes, Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Sparse eyebrow, Prel...	ORPHA:477
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Simple ear, Postax...	OMIM:613610
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoaciduria, Low-set...	ORPHA:534
Marshall Syndrome	Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairment, Genu valgum, Sparse hair	ORPHA:560
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Abnormal pinna morphology, Postaxial polydactyly, Preaxial polydactyly, Hypop...	OMIM:617925
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Ureteral obstruction, Capitate-hamate fusion, G...	OMIM:304150
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Fine hair,...	OMIM:614748
Mucolipidosis Type Ii	Hip contracture, Dry hair, Limited wrist movement, Sensorineural hearing impairment, White hair, ...	ORPHA:576
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmoplantar hyperhidrosis, Palmar hyperkerat...	OMIM:150400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Low-set ears, Sparse lateral eyebrow	ORPHA:314655
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Bladder diverticulum, Spar...	ORPHA:565
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Sensorineural hearing impairment, Brittle hair, Aminoaciduria	OMIM:616084
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Macroorchidism, Thickened helices, Hearing impairment, Tapered finger, Precocious pub...	OMIM:619950
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha...	ORPHA:363618
Senior-Loken Syndrome 8	Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron...	OMIM:616307
Argininosuccinic Aciduria	Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa	OMIM:207900
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Polydactyly, Complete duplication of thumb ...	ORPHA:59315
Orofaciodigital Syndrome V	Sandal gap, Unilateral cryptorchidism, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh...	OMIM:174300
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Posteriorly rotated ears, Tapered finger, Decreased response to growth ...	OMIM:615873
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Sparse hair, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th...	OMIM:268300
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Clinodactyly of the 5th finger,...	OMIM:619539
Costello Syndrome	Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Renal insufficiency, Posteri...	OMIM:218040
Miller-Dieker Lissencephaly Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Po...	OMIM:247200
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Premature graying of ha...	OMIM:113620
Menke-Hennekam Syndrome 1	Short ear, Prominent inferior crus of antihelix, Overlapping toe, Broad hallux, Sandal gap, Crypt...	OMIM:618332
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Cryptorchidism, Small hand, Renal hypoplasia, Hip dysplasia, Microtia, Low-set ea...	OMIM:620005
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Adrenal hypoplasia, Protruding ear, Clinodacty...	OMIM:607932
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Highly arched eyebrow, Postaxial polydactyly, Trichiasis, Sensorineural hea...	OMIM:618460
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Sensori...	OMIM:616580
Neurocardiofaciodigital Syndrome	Syndactyly, Sparse eyebrow, Vesicoureteral reflux, Polydactyly, Sparse hair, Hearing impairment	OMIM:619869
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Nail dystrophy, Sparse hair, Hearing impairment	ORPHA:85448
Legius Syndrome	Inguinal freckling, Axillary freckling, Nephrolithiasis, Multiple cafe-au-lait spots, Diaphyseal ...	ORPHA:137605
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Palmoplantar keratoderma, Reduced circulating growth hormone concentration	OMIM:615508
Fontaine Progeroid Syndrome	Syndactyly, Sparse scalp hair, Absent nipple, Posteriorly rotated ears, Cryptorchidism, Synophrys...	OMIM:612289
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral ren...	ORPHA:268261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Abnormal pelvis bone morphology, Thin fingernail, Camptodactyly of fing...	ORPHA:2273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperplasia, Contractur...	ORPHA:83617
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Hypoplasia of the thymus, Nail dystrophy, Type I diabetes mellitus, Sparse hair, ...	ORPHA:436252
Mullegama-Klein-Martinez Syndrome	Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Absent stapes, Microtia...	OMIM:301022
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Proteinuria, Decreased fibular diameter, Sparse eyebrow, Osteolytic defects of the ph...	OMIM:619127
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe...	OMIM:619471
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hip dysplasia, Proximal tubulopathy, Postaxial polydactyly	OMIM:614576
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Trichorhinophalangeal Syndrome, Type Ii	Single transverse palmar crease, Bilateral cryptorchidism, Protruding ear, Vesicoureteral reflux,...	OMIM:150230
Cockayne Syndrome Type 3	Dry hair, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal ...	ORPHA:90324
Ogden Syndrome	Global glomerulosclerosis, Congenital hip dislocation, Broad hallux, Sandal gap, Maternal diabete...	OMIM:300855
Zttk Syndrome	Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Small hand, ...	OMIM:617140
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicoureteral refl...	ORPHA:3455
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Chand Syndrome	Curly hair, Short fifth metatarsal, Nail dysplasia, Hydroureter	ORPHA:1401
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Proteinuria, Precocious puberty, Cryptorchidism, Sparse hair, Nail dysplasia, Cl...	OMIM:616682
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hip dysplasi...	ORPHA:457284
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormality of hair texture, Abnormal epiphysis morphology, Abnormal me...	ORPHA:667
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Dry hair, N...	ORPHA:191
Okamoto Syndrome	Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Unilateral renal hy...	ORPHA:2729
Cerebrooculonasal Syndrome	Sparse eyelashes, Posteriorly rotated ears, Postaxial polydactyly, Sparse eyebrow, Postaxial hand...	OMIM:605627
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Posterior helix pit, Hypospadias, Cryptorch...	OMIM:312870
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Adrenal hyp...	OMIM:249000
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid...	OMIM:222700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Renal hypoplasia, Pseudohypoparathyroidism, Sparse hair, Cubi...	OMIM:617157
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Vesicoureteral reflux, Conductive hearing impairment, Syndactyly, Broad hallux, Hypospadias, High...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Vesicoureteral reflux, Conductive hearing impairment, Syndactyly, Broad hallux, Hypospadias, High...	ORPHA:353277
Wrinkly Skin Syndrome	Scapular winging, Congenital hip dislocation, Short nail, Cryptorchidism, Coxa vara, Slender long...	OMIM:278250
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Alopecia universalis	ORPHA:158668
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Triphalangeal ...	OMIM:149730
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Cone-shaped epiphysis, Short...	OMIM:617088
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Hyperpigmented streaks, Renal cyst, ...	OMIM:601803
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Camptodactyly of finger, Short nail, Sparse eyebrow, Aplasia/H...	ORPHA:1662
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polyd...	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Urinary retention, Thin nail	OMIM:617799
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Low-set ears, Polycys...	OMIM:616546
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Supernumerary nipple, Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Ve...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Supernumerary nipple, Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Ve...	ORPHA:352665
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Loss of eyelashes, Testicular mass, Abnormali...	ORPHA:548
Primrose Syndrome	Bilateral cryptorchidism, Synophrys, Hypothyroidism, Dystrophic fingernails, Cryptorchidism, Supe...	OMIM:259050
Retinitis Pigmentosa 74	Pigmentary retinopathy, Polydactyly	OMIM:616562
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Vascular Ehlers-Danlos Syndrome	Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture, Abnormal eyelash ...	ORPHA:286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Sensorineural hearing impairment, Methylmalonic aciduria...	ORPHA:17
Monosomy 9Q22.3	Ovarian fibroma, Palmar pits, Polydactyly, Low-set ears, Thickened ears	ORPHA:77301
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly	OMIM:219730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Absent gallbladder, Arachnodactyly, Unilateral renal agenesis, Absent thumb, Sparse e...	ORPHA:500150
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Preaxial polydactyly	ORPHA:163681
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Polyuria, Pigmentary retinopathy, Low-set ears, Type I diabetes mellitus, Spar...	OMIM:606721
Stromme Syndrome	Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis, Low-set ears	OMIM:243605
Wrinkly Skin Syndrome	Congenital hip dislocation, Cryptorchidism, Coxa vara, Slender long bones with narrow diaphyses, ...	ORPHA:2834
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis, Short eyelashes	OMIM:612731
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hearing impairment	OMIM:124000
Joubert Syndrome 39	Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Choanal Atresia	Polydactyly	ORPHA:137914
Vater/Vacterl Association	Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Hypoplasia of the radius, Pr...	OMIM:192350
Liver Disease, Severe Congenital	Dry hair, Hypospadias, Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, H...	OMIM:619991
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Orofaciodigital Syndrome Xiv	Posteriorly rotated ears, Broad hallux, Epispadias, Postaxial hand polydactyly, Cryptorchidism, P...	OMIM:615948
African Trypanosomiasis	Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ...	ORPHA:3385
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial polydactyly...	OMIM:619534
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ...	OMIM:610168
Dyskeratosis Congenita, Autosomal Dominant 6	Nail dystrophy	OMIM:616553

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acd.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Acd^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Acd^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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