Gene: Foxe1 MGI:1353500

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box E1

Synonyms:

Titf2, thyroid transcription factor 2

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 Foxe1 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 Foxe1 (5 diseases)
Human diseases predicted to be associated with Foxe1 (629 diseases)

The table below shows human diseases associated to Foxe1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Goiter, Papillary thyroid carcinoma	OMIM:616534
Bamforth-Lazarus Syndrome	Abnormal hair quantity, Thyroid agenesis, Congenital hypothyroidism, Cleft palate	ORPHA:1226
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter	ORPHA:319487
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism, Cleft palate	OMIM:241850
Athyreosis	Macroglossia, Thyroid agenesis, Hypothyroidism	ORPHA:95713

The table below shows human diseases predicted to be associated to Foxe1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thyroid Carcinoma, Familial Medullary	Medullary thyroid carcinoma	OMIM:155240
Thyroid Cancer, Nonmedullary, 2	Follicular thyroid carcinoma, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma	OMIM:188470
Thyroid Cancer, Nonmedullary, 3	Non-medullary thyroid carcinoma	OMIM:606240
Thyroid Cancer, Nonmedullary, 5	Non-medullary thyroid carcinoma	OMIM:616535
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Thyroid Cancer, Nonmedullary, 1	Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma	OMIM:188550
Deiodinase, iodothyronine, type I	Goiter, Euthyroid hyperthyroxinemia	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Goiter, Euthyroid hyperthyroxinemia	OMIM:188560
Thyroid Dyshormonogenesis 3	Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio	OMIM:274700
Thyroid Dyshormonogenesis 2A	Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen...	OMIM:274500
Hypotrichosis 1	Sparse body hair, Abnormality of the dentition, Sparse axillary hair, Abnormality of the nail, Sp...	OMIM:605389
Thyroid Dyshormonogenesis 5	Goiter, Hypothyroidism	OMIM:274900
Thyroid Dyshormonogenesis 4	Goiter, Hypothyroidism	OMIM:274800
Witkop Syndrome	Microdontia of primary teeth, Nail pits, Ridged nail, Agenesis of permanent teeth, Fine hair, Con...	OMIM:189500
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair	OMIM:616760
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Tooth malposition, Tooth agenesis, Abnormality of dental morphology, Alopecia, ...	ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Hypodontia	OMIM:246500
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot...	OMIM:275200
Woolly Hair Nevus	Woolly scalp hair, Widely-spaced incisors, Congenital posterior occipital alopecia, Patchy hypopi...	ORPHA:79414
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair	ORPHA:55654
Hypotrichosis 4	Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair	OMIM:146550
Uncombable Hair Syndrome 3	Curly hair, Pili canaliculi, Uncombable hair, Brittle hair	OMIM:617252
Hypotrichosis 11	Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo...	OMIM:615059
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens...	OMIM:188570
Cardiofaciocutaneous Syndrome 2	High palate, Curly hair, Fine hair, Absent eyebrow, Sparse hair	OMIM:615278
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Thin toenail, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair...	ORPHA:2228
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 9	Sparse body hair, Sparse scalp hair	OMIM:614237
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Hypotrichosis 10	Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Thin toenail, Alopecia, Dystrophic toenail	OMIM:614928
Naxos Disease	Curly hair, Abnormality of hair texture, Woolly hair, Cleft upper lip, Sparse scalp hair	ORPHA:34217
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Parc Syndrome	Cleft palate, Absent eyebrow, Alopecia, Absent eyelashes	OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Abnormality of the dentition, Alopecia universalis, Abnormal eyelash morphology...	ORPHA:1008
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse body hair, Conical primary incisor, Curly eyelashes, Curly hair, Brittle hair, Sparse eyeb...	OMIM:602400
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Goiter, Papillary thyroid carcinoma	OMIM:616534
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dysplasia, Concave nail, Absent eyelashes, Nail dystrophy, Sparse hair, Atrichia	OMIM:614931
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormality of hair te...	ORPHA:2891
Pili Torti	Abnormality of the dentition, Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair,...	ORPHA:2889
Hypotrichosis 7	Sparse body hair, Abnormality of the dentition, Sparse axillary hair, Brittle hair, Abnormality o...	OMIM:604379
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Cryptorchidism, Tooth malposition, Hypogonadism, Abnormality of dental morphology	ORPHA:85274
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Tooth Agenesis, Selective, 8	Sparse hair, Microdontia, Sparse eyebrow, Selective tooth agenesis	OMIM:617073
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism, Fine hair, Microdontia, Hypodontia, Sparse hair	ORPHA:1174
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Adenomatous colonic polyposis, Sparse...	ORPHA:401911
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Nail dysplasia, Anodontia, Brittle hair, Progressive hypotrichosis, ...	OMIM:225060
Crandall Syndrome	Sparse body hair, Hypogonadism, Fine hair, Brittle hair, Alopecia, Abnormal testis morphology, Ap...	ORPHA:202
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Hypothyroidism, Absent eyelashes, Thin nail, Absent eyebrow, Nail dystrophy, Spars...	OMIM:618625
Blepharochalasis And Double Lip	Goiter	OMIM:109900
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Type I dia...	ORPHA:181
Hidrotic Ectodermal Dysplasia	Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing...	ORPHA:189
Hypothyroidism, Congenital, Nongoitrous, 9	Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra...	OMIM:301035
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Curly eyelashes, Cryptorchidism, Abnormal palate morphology, Curly hair, Low post...	ORPHA:163654
Chand Syndrome	Curly hair, Nail dysplasia, Commissural lip pit	OMIM:214350
Braddock-Carey Syndrome 1	Anteriorly placed anus, Curly hair, Pierre-Robin sequence, Enamel hypoplasia, Cleft palate, Evert...	OMIM:619980
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal eyelash morphology, Abnormal toenail morphology, Abnormality of dental...	ORPHA:1818
Trichodysplasia-Xeroderma Syndrome	Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa...	ORPHA:3361
Trichodental Dysplasia	Conical tooth, Fine hair, Brittle hair, Odontodysplasia, Slow-growing hair, Hypodontia, Sparse hair	OMIM:601453
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair, Everted lower lip vermilion	OMIM:278200
Graham Little-Piccardi-Lassueur Syndrome	Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse axillary hair, Abnormality of the nail, Absent eyebrow, Onychogryposis of toenails, Nail d...	ORPHA:1808
Monilethrix	Abnormality of the dentition, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morp...	ORPHA:573
Trichothiodystrophy 9, Nonphotosensitive	Tiger tail banding, High, narrow palate, Dental malocclusion, Sparse eyebrow, Nail dystrophy, Spa...	OMIM:619692
Pendred Syndrome	Goiter, Thyroid carcinoma, Compensated hypothyroidism	OMIM:274600
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent...	OMIM:602032
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Anodontia, Ridged nail, Fine hair, Microdontia, Slow-growing hair, Sparse eyebrow, Hypodontia, Sp...	OMIM:129490
Hypotrichosis 12	Abnormality of the dentition, Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland...	OMIM:615885
Bamforth-Lazarus Syndrome	Abnormal hair quantity, Thyroid agenesis, Congenital hypothyroidism, Cleft palate	ORPHA:1226
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Thick eyebrow, Long philtrum, Sparse hair, Thin upper lip vermilion	OMIM:606242
Woolly Hair	Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S...	ORPHA:170
Uncombable Hair Syndrome	Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia	ORPHA:1410
Hawkinsinuria	Sparse hair, Fine hair, Hypothyroidism	ORPHA:2118
Oliver-Mcfarlane Syndrome	Delayed puberty, Long eyelashes, Cryptorchidism, Decreased response to growth hormone stimulation...	OMIM:275400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal toenail morphology, Hypoplasia of teeth, Fine hair, Abnormality of dental morphology, Al...	ORPHA:248
Angioma Serpiginosum, X-Linked	Sparse hair, Fine hair, Nail dystrophy	OMIM:300652
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter	OMIM:180295
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Synophrys, Everted lower lip vermilion, Tented upper lip vermilion, Sparse eyebrow, S...	OMIM:620075
Hypotrichosis 8	Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair...	OMIM:278150
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Abnormality of the dentition, Fragile nails	ORPHA:500166
Monilethrix	Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair	OMIM:158000
Hypotrichosis 13	Abnormality of dental morphology, Abnormal sweat gland morphology, Woolly hair, Sparse hair, Spar...	OMIM:615896
Growth Hormone Insensitivity Syndrome	Hypogonadism, Diabetes mellitus, Fine hair, Diabetes insipidus, Abnormality of the nail, Everted ...	ORPHA:181393
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormality of the dentition, Onycholysis, Brittle hair, Dystrophic fingernails, Alopecia, Dystro...	OMIM:614929
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Curly hair, Widely spaced teeth, Coarse hair, Smooth philtrum	OMIM:616351
Aredyld	Generalized hypotrichosis	OMIM:207780
Cardiofaciocutaneous Syndrome 4	Curly hair, Alopecia of scalp, Decreased response to growth hormone stimulation test, Absent eyeb...	OMIM:615280
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Hypothyroidism, ...	ORPHA:1882
Pili Torti-Onychodysplasia Syndrome	Sparse body hair, Alopecia universalis, Cleft lip, Brittle hair, Alopecia, Absent eyelashes, Clef...	ORPHA:2890
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Low posterior hairline, Absent facial hair, Hypergonadotropic hypogonadism, H...	ORPHA:2183
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism	ORPHA:2574
Focal Facial Dermal Dysplasia Type I	Distichiasis, Low anterior hairline, Absent eyelashes, Sparse lateral eyebrow, Downturned corners...	ORPHA:79133
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:234030
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Anal atresia, Distichiasis, Low anterior hairline, Thick upper lip vermil...	OMIM:227260
Xq27.3Q28 Duplication Syndrome	Sparse body hair, Cryptorchidism, Decreased testicular size, Hypogonadism, Thin vermilion border	ORPHA:261483
Noonan Syndrome 5	Cryptorchidism, Curly hair, Fine hair, Small nail, Sparse eyebrow, Thick vermilion border, Wide m...	OMIM:611553
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Abnormality of the dentition, Abnormality of dental morphology, Abnormal finger...	ORPHA:1810
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Leopard Syndrome 2	Curly hair, Thick lower lip vermilion	OMIM:611554
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Abnormality of dental morphology, Alopecia, Everted lower lip vermi...	ORPHA:2251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Cryptorchidism, High, narrow palate, Downturned corners of mouth, Sparse hair, Wide mouth	OMIM:273390
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Decreased circulating free T4 concentration, Ectopic thyroid, Elevated circulat...	OMIM:225250
Noonan Syndrome 6	Cryptorchidism, Curly hair, Low posterior hairline, Long eyebrows, Sparse hair	OMIM:613224
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Patchy alopecia, Widely spaced teeth, Absent facial hair, Alopecia, Small nail, En...	OMIM:613573
Björnstad Syndrome	Brittle hair, Alopecia, Hypogonadism	ORPHA:123
Choroidal Atrophy-Alopecia Syndrome	Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Ung...	ORPHA:1433
Smith-Kingsmore Syndrome	Open mouth, Cryptorchidism, Curly hair, Long philtrum, Smooth philtrum, Thin upper lip vermilion,...	OMIM:616638
Palmoplantar Keratoderma And Woolly Hair	Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair	OMIM:616099
Cardiofaciocutaneous Syndrome 3	Curly hair, Wide mouth	OMIM:615279
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Schopf-Schulz-Passarge Syndrome	Poroma, Sparse body hair, Ridged nail, Onycholysis, Small nail, Thin nail, Hypodontia, Apocrine h...	OMIM:224750
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Ritscher-Schinzel Syndrome 4	High palate, Cryptorchidism, Curly hair, Narrow palate, Thick vermilion border, Short philtrum, W...	OMIM:619435
Hypotrichosis 6	Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Pili torti	OMIM:607903
Noonan Syndrome 9	Curly hair, Sparse eyebrow, Cryptorchidism	OMIM:616559
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Hypodontia, Sparse hair, Ovarian neoplasm, Aplasia/Hyp...	ORPHA:50944
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Intestinal polyp, Open mouth, Cryptorchidism, Curly hair, Long philtrum, Lactose intolerance, Wid...	ORPHA:457485
Hypotrichosis Simplex Of The Scalp	Abnormality of the dentition, Abnormal eyelash morphology, Abnormality of the axillary hair, Abno...	ORPHA:90368
Eem Syndrome	Sparse body hair, Selective tooth agenesis, Widely spaced teeth, Abnormality of dental morphology...	ORPHA:1897
Noonan Syndrome 14	Cryptorchidism, Curly hair, Low posterior hairline, High, narrow palate, Sparse eyebrow, Long phi...	OMIM:619745
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth	ORPHA:2266
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Short lingual frenulum, Low posterior hairline, Thick eyebrow, Microdontia, Highly ar...	OMIM:617360
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Abnormality of the dentition, Uncombable hair, Supernumerary tooth, Sparse hair	ORPHA:1264
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Bjornstad Syndrome	Hypogonadism, Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 ...	OMIM:262000
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Trichorrhexis nodosa, Curly hair, Short eyelashes, Concave nail, Hypoplastic fin...	OMIM:258360
Adducted Thumbs Syndrome	High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, Hypertrichosis	OMIM:201550
Clouston Syndrome	Nail dysplasia, Abnormality of the dentition, Onycholysis, Absent axillary hair, Fine hair, Britt...	OMIM:129500
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Sparse hair, Pili ...	ORPHA:113
Carvajal Syndrome	Woolly hair	ORPHA:65282
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Cryptorchidism, Decreased testicular size, Hypogonadism, Increased circulating ...	OMIM:300869
Nicolaides-Baraitser Syndrome	Long eyelashes, Curly eyelashes, Cryptorchidism, Alopecia, Everted lower lip vermilion, High, nar...	ORPHA:3051
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	High palate, Curly hair, Thick vermilion border, Short philtrum, Wide mouth	OMIM:300986
Ectodermal Dysplasia 13, Hair/Tooth Type	Oligodontia, Brittle hair, Low anterior hairline, Thick vermilion border, Sparse eyelashes, Thin ...	OMIM:617392
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Anonychia, Enamel hypoplasia, Oral mucosal blisters, Scarring alopecia of scalp...	ORPHA:79402
Trichohepatoneurodevelopmental Syndrome	Macroglossia, High palate, Long eyelashes, Synophrys, Hypoplastic nipples, Curly hair, Widely spa...	OMIM:618268
Lessel-Kubisch Syndrome	Premature graying of hair, Sparse pubic hair, Narrow mouth, Hypogonadism	OMIM:618681
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Oligodontia, High palate, Fine hair, Cleft palate, Dental crowding, Na...	ORPHA:251019
Chops Syndrome	Long eyelashes, Cryptorchidism, Thick hair, Synophrys, Curly hair, Thick eyebrow, High, narrow pa...	OMIM:616368
Graves Disease, Susceptibility To, 1	Graves disease, Goiter, Onycholysis, Increased circulating free T3, Decreased thyroid-stimulating...	OMIM:275000
Filippi Syndrome	Cryptorchidism, Hypertrichosis, Serrated incisors, Frontal hirsutism, Abnormality of dental morph...	OMIM:272440
Rapp-Hodgkin Syndrome	Bifid uvula, Onychogryposis, Cleft palate, Narrow mouth, Slow-growing hair, Sparse eyebrow, Cario...	OMIM:129400
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse body hair, Nail dysplasia, Abnormal toenail morphology, Supernumerary nipple, Absent eyela...	ORPHA:1809
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co...	OMIM:613239
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter	ORPHA:319487
Amelo-Onycho-Hypohidrotic Syndrome	Tooth agenesis, Onycholysis, Fine hair, Abnormal dental enamel morphology, Abnormality of dental ...	ORPHA:1028
Leopard Syndrome 3	Curly hair, Low posterior hairline	OMIM:613707
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Tooth agenesis, Microdontia, Fingernail dysplasia, Sparse sc...	ORPHA:1660
Noonan Syndrome 4	Cryptorchidism, Curly hair, High anterior hairline, Dental malocclusion, Sparse eyebrow, Thick ve...	OMIM:610733
Noonan Syndrome 8	Curly hair, Cryptorchidism	OMIM:615355
Noonan Syndrome 7	Curly hair, Abnormal esophagus morphology, Low posterior hairline, Thick vermilion border	OMIM:613706
Hypotrichosis And Recurrent Skin Vesicles	Sparse body hair, Sparse axillary hair, Angular cheilitis, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Oculodentodigital Dysplasia	Tooth agenesis, Curly hair, Fine hair, Brittle hair, Abnormality of the nail, Taurodontia, Abnorm...	ORPHA:2710
Gand Syndrome	Sparse hair, Thin upper lip vermilion, Wide mouth, Short philtrum	OMIM:615074
Pili Torti, Early-Onset	Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ...	OMIM:261900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High palate, Cryptorchidism, Bifid uvula, Curly hair, Widely spaced teeth, Low posterior hairline...	OMIM:617506
Blepharocheilodontic Syndrome 1	Conical tooth, Anal atresia, Nail dysplasia, Distichiasis, Small nail, High anterior hairline, Hy...	OMIM:119580
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E...	OMIM:274300
Woolly Hair, Autosomal Dominant	Abnormal eyelash morphology, Abnormal eyebrow morphology, Coarse hair, Slow-growing hair, Woolly ...	OMIM:194300
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair, Cleft u...	OMIM:273400
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Coarse hair, Sparse hair, Furrowed tongue, Pili torti	OMIM:301845
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Ovaria...	ORPHA:2221
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, High palate	ORPHA:85184
Sabinas Brittle Hair Syndrome	Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair	OMIM:211390
Ascher Syndrome	Goiter, High palate, Abnormal upper lip morphology, Hypothyroidism	ORPHA:1253
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Sparse axillary hair, Hypogonadotropic hypogonadism, S...	OMIM:146110
Craniofrontonasal Syndrome	Cryptorchidism, Abnormality of the dentition, Ridged nail, Breast hypoplasia, Curly hair, Widow's...	OMIM:304110
Trichothiodystrophy 5, Nonphotosensitive	Decreased testicular size, Widely spaced primary teeth, Tiger tail banding, Brittle hair, Slow-gr...	OMIM:300953
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Brittle hair, Alopecia, Sparse eyebrow, Leukonychia, Sparse hair	OMIM:104100
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Abnormality of hair texture, Dental malocclusion, Natal tooth, Nail dystrophy, Th...	OMIM:601957
Alopecia Antibody Deficiency	Sparse body hair, Abnormal eyelash morphology, Abnormality of dental color, Sparse hair, Aplasia/...	ORPHA:1006
Congenital Short Bowel Syndrome	Sparse hair, Intestinal malrotation, Intestinal hypoplasia	ORPHA:2301
Chand Syndrome	Nail dysplasia, Agenesis of permanent teeth, Agenesis of maxillary incisor, Curly hair, Cleft pal...	ORPHA:1401
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Anodontia, Hypogonadism, Bilateral cleft lip and palate, Synophrys,...	ORPHA:3253
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Focal Facial Dermal Dysplasia Type Iii	Anal atresia, Sparse lower eyelashes, Distichiasis, Highly arched eyebrow, Sparse lateral eyebrow...	ORPHA:1807
Keratoderma Hereditarium Mutilans	Abnormal toenail morphology, Abnormality of the nail, Alopecia, Cleft palate, Hypogonadotropic hy...	ORPHA:494
Cardiofaciocutaneous Syndrome 1	Open mouth, Abnormality of the dentition, High palate, Curly hair, Deep philtrum, Low posterior h...	OMIM:115150
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Hypergonadotropic hypogonadism, Aplasia/Hypoplasia of the eyebrow, Sp...	ORPHA:2850
Thyroid Dyshormonogenesis 1	Goiter, Hypothyroidism	OMIM:274400
Brachycephaly, Trichomegaly, And Developmental Delay	Open mouth, Long eyelashes, High palate, Bifid uvula, Synophrys, Brittle hair, Submucous cleft ha...	OMIM:617412
Tetrasomy 12P	Abnormal soft palate morphology, Anal atresia, Everted lower lip vermilion, Downturned corners of...	ORPHA:884
Androgen Insensitivity Syndrome	Sparse axillary hair, Elevated circulating follicle stimulating hormone level, Absent facial hair...	OMIM:300068
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Hereditary Mucoepithelial Dysplasia	Fine hair, Alopecia, Gingival overgrowth, Sparse hair, Tracheoesophageal fistula, Furrowed tongue	ORPHA:1839
Kallmann Syndrome With Spastic Paraplegia	High palate, Cryptorchidism, Testicular atrophy, Decreased circulating follicle stimulating hormo...	OMIM:308750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Trichohepatoenteric Syndrome 1	Bifid uvula, Trichorrhexis nodosa, Curly hair, Fine hair, Brittle hair, Villous atrophy, Narrow m...	OMIM:222470
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Tiger tail banding	OMIM:618546
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Papillary thyroid carcinoma, Nodular goiter	ORPHA:97290
Congenital Hypothyroidism	Macroglossia, Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Intesti...	ORPHA:442
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Oligodontia, Absent hair, Brittle hair, Everted lower lip vermilion, Hypodontia, Sparse hair, Abs...	OMIM:614940
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Conical tooth, Oligodontia, Anodontia, Everted upper lip vermilion, Microdontia, Everted lower li...	OMIM:224900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse body hair, Oligodontia, Sparse eyebrow, Hypodontia, Scarring alopecia of scalp, Abnormal d...	ORPHA:59303
Autoimmune Polyendocrinopathy Type 2	Graves disease, Abnormality of the thyroid gland, Hypogonadism, Hashimoto thyroiditis, Hypoparath...	ORPHA:3143
Permanent Congenital Hypothyroidism	Macroglossia, Goiter, Thyroid dysgenesis, Hypothyroidism	ORPHA:226292
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Conical tooth, Sparse body hair, Hypoplastic nipples, Xerostomia, Absent eyelashes, Everted lower...	OMIM:614941
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Neoplasm of the thyroid gland, Goiter, Abnormal hair quantity, Polycystic ovaries, Abnormal calci...	ORPHA:457059
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Brittle hair, Pili torti, Sparse scalp hair	ORPHA:1573
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Brittle hair, Alopecia, Everted lower lip vermilion, Coars...	ORPHA:75389
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding	OMIM:616390
Pseudoprogeria Syndrome	Alopecia, Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair	ORPHA:2985
Naxos Disease	Sparse body hair, Onycholysis, Curly hair, Woolly hair, Sparse eyebrow, Subungual hyperkeratosis,...	OMIM:601214
Pachyonychia Congenita 2	Oral leukoplakia, Nail dysplasia, Angular cheilitis, Sparse eyebrow, Dry hair, Subungual hyperker...	OMIM:167210
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Long philtrum, Sparse hair, Thin upper lip ver...	OMIM:619691
Craniofrontonasal Dysplasia	High palate, Abnormality of the dentition, Widow's peak, Low posterior hairline, Abnormality of h...	ORPHA:1520
Vulto-Van Silfhout-De Vries Syndrome	High palate, Fine hair, Widow's peak, Horizontal eyebrow, Tented upper lip vermilion, Thick lower...	OMIM:615828
Johnson Neuroectodermal Syndrome	Hypogonadism, Alopecia, Absent eyelashes, Cleft palate, Absent eyebrow, Everted lower lip vermili...	ORPHA:2316
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Hyperconvex nail, Supernumerary nipple, Hyperconvex fingernails, Dystrophic finger...	ORPHA:1071
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Uncombable hair, Brittle hair, Villous atrophy, Colitis, Woolly hair, Spars...	OMIM:614602
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Hypoplasia of teeth, Brittle hair, Concave nail, Small nail...	OMIM:234050
Cardiocranial Syndrome, Pfeiffer Type	Cryptorchidism, Bifid uvula, Broad philtrum, High, narrow palate, Sparse hair, Abnormal hair whorl	ORPHA:2872
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair, Carious teeth	ORPHA:1883
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Familial Thyroid Dyshormonogenesis	Macroglossia, Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration...	ORPHA:95716
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Smooth philtrum, Sparse hair, Thin upper lip vermilion, Wide mouth	OMIM:619989
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Slow-growing hair, Sparse hair, Sparse eyelashes, Sparse scalp hair	OMIM:618535
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Frontal balding, Synophrys, Abnormality of the ovary, Thick e...	ORPHA:247768
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Widely spaced teeth, Thick eyebrow, Cleft palate, High anterior hairline, Smooth p...	OMIM:619950
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal toenail morphology, Taurodontia, Microdontia, Abnormal fin...	ORPHA:1515
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto...	OMIM:160980
Cronkhite-Canada Syndrome	Sparse body hair, Patchy alopecia, Colon cancer, Malabsorption, Dystrophic fingernails, Intestina...	ORPHA:2930
Acrofacial Dysostosis, Palagonia Type	Oligodontia, Unilateral cleft lip, Low anterior hairline, High, narrow palate, Sparse lateral eye...	ORPHA:1787
Progeroid Syndrome, Petty Type	Tooth agenesis, Abnormal hair morphology, Brittle hair, Abnormality of the nail, Thick eyebrow, E...	ORPHA:2963
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair, Decreased testicular size, Abnormality of the thyroid gland, Hypogonadism, Type...	ORPHA:2234
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Brittle hair, Alopecia, High palate	ORPHA:50812
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Oligodontia, Cryptorchidism, Fine hair, Narrow mouth, Downturned corners of mout...	OMIM:616817
Fanconi Anemia, Complementation Group S	Long eyelashes, Low anterior hairline, Ovarian carcinoma, Macrodontia, Narrow palate, Dental malo...	OMIM:617883
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Premature loss of teeth, Multinodular goiter, Alopecia, Nail dystrophy, Alopecia of scalp	OMIM:618373
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	High palate, Long eyelashes, Loose anagen hair, Cryptorchidism, Curly hair, Sparse hair, Sparse s...	OMIM:607721
Weaver Syndrome	Cryptorchidism, Fine hair, Deep-set nails, Deep philtrum, Abnormal fingernail morphology, Thin na...	ORPHA:3447
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Macroglossia, High palate, Long eyelashes, Thick hair, Abnormal toenail morphology, Synophrys, Cu...	ORPHA:444077
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Oligodontia, Hypoplasia of teeth, Diabetes mellitus, Fine hair, Synophrys, Low a...	ORPHA:391408
Resistance To Thyrotropin-Releasing Hormone Syndrome	Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, El...	ORPHA:99832
Lelis Syndrome	Absent lower eyelashes, Abnormal toenail morphology, Yellow nails, Sparse lateral eyebrow, Hypodo...	ORPHA:140936
Ectodermal Dysplasia/Skin Fragility Syndrome	Dystrophic fingernails, Alopecia of scalp, Absent eyelashes, Absent eyebrow, Nail dystrophy, Spar...	OMIM:604536
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Low anterior hairline, Thick eyebrow, Everted lower lip vermilion, Hirsutism, Spa...	OMIM:616819
Thyroid Lymphoma	Hypothyroidism, Goiter, Hyperthyroidism, Hashimoto thyroiditis	ORPHA:97285
Glutaric Aciduria Iii	Goiter, Hyperthyroidism	OMIM:231690
Oligodontia-Colorectal Cancer Syndrome	Sparse body hair, Oligodontia, Colon cancer, Sparse axillary hair, Short eyelashes, Absent eyebro...	OMIM:608615
Anauxetic Dysplasia 2	Macroglossia, Nail dysplasia, Small nail, Hypodontia, Sparse hair	OMIM:617396
Dyskeratosis Congenita, Autosomal Recessive 6	Oral leukoplakia, Premature loss of teeth, Alopecia, Carious teeth, Nail dystrophy, Sparse hair	OMIM:616353
Split-Hand/Foot Malformation 3	High palate, Nail dysplasia, Ridged nail, Cleft palate, Narrow mouth, Nail dystrophy	OMIM:246560
Noonan Syndrome 10	Curly hair, High palate, Sparse eyebrow, Cryptorchidism	OMIM:616564
Noonan Syndrome 2	High palate, Cryptorchidism, Curly hair, Low posterior hairline, Sparse eyebrow	OMIM:605275
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Trichorrhexis nodosa, Cleft palate, Sparse lateral eyebrow, Scarring al...	OMIM:617337
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism, Cleft palate	OMIM:241850
Trichorhinophalangeal Syndrome, Type I	Fine hair, Deep philtrum, Concave nail, Microdontia, Thin nail, Sparse lateral eyebrow, Slow-grow...	OMIM:190350
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Cleft palate, Tented upper lip vermilion, Highly arched eyebrow, Everted lower lip ver...	OMIM:616898
Aredyld Syndrome	Sparse body hair, Advanced eruption of teeth, Narrow mouth, Type II diabetes mellitus, Smooth phi...	ORPHA:1133
Even-Plus Syndrome	Anal atresia, High palate, Synophrys, Highly arched eyebrow, Hypodontia, Sparse hair	OMIM:616854
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Abnormality of the Leydig cells, Sparse axillary hair, Elevated circulating foll...	OMIM:228300
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	High palate, Cryptorchidism, Low anterior hairline, Broad eyebrow, Tented upper lip vermilion, Hi...	OMIM:619244
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, High palate, Decreased circulating...	OMIM:308700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Premature loss of teeth, High palate, Hypoplasia of teeth, Brittle hair, Alopecia, Hyperinsulinem...	OMIM:608612
Trichodermodysplasia-Dental Alterations Syndrome	Adenoma sebaceum, Tooth agenesis, Fine hair, Brittle hair, Abnormality of dental morphology, Spar...	ORPHA:3353
Localized Junctional Epidermolysis Bullosa	Atrophic, patchy alopecia, Sparse axillary hair, Dystrophic fingernails, Dental enamel pits, Dyst...	ORPHA:251393
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Sparse body hair, Anonychia, Hyperconvex nail, Patchy alopecia, Selective tooth ag...	OMIM:106260
Craniolenticulosutural Dysplasia	Premature loss of teeth, High palate, Hypoplasia of teeth, Brittle hair, Microdontia, Coarse hair...	ORPHA:50814
Odontoonychodermal Dysplasia	Short nail, Sparse body hair, Anonychia, Nail dysplasia, Conical incisor, Ridged nail, Agenesis o...	OMIM:257980
Giant Axonal Neuropathy	Pili canaliculi, Woolly hair, Abnormality of the pituitary gland	ORPHA:643
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Long eyelashes, Fine hair, High anterior hairline, Downturned corners of mouth, Short philtrum, T...	ORPHA:231137
Pendred Syndrome	Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism	ORPHA:705
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Woolly hair, Tooth agenesis	OMIM:605676
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	High palate, Tented upper lip vermilion, Long philtrum, Sparse hair, Short philtrum	OMIM:620001
Fetal Hydantoin Syndrome	Cryptorchidism, Low posterior hairline, Cleft palate, Hypoplastic fingernail, Coarse hair, Everte...	ORPHA:1912
Hypotrichosis 14	Sparse body hair, Absent axillary hair, Short eyelashes, Sparse hair, Sparse pubic hair	OMIM:618275
Tonne-Kalscheuer Syndrome	Decreased testicular size, Cryptorchidism, Fine hair, Widely spaced teeth, Concave nail, Small na...	OMIM:300978
Down Syndrome	Macroglossia, Anal atresia, Open mouth, Abnormality of the dentition, Microdontia, Aganglionic me...	ORPHA:870
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Goiter, Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Abno...	ORPHA:95715
Mandibuloacral Dysplasia	High palate, Hypoplasia of teeth, Abnormal tongue morphology, Alopecia, Hyperinsulinemia, Dental ...	ORPHA:2457
Hall-Riggs Syndrome	Thick hair, Abnormal dental enamel morphology, Coarse hair, Slow-growing hair, Downturned corners...	ORPHA:2107
Igg4-Related Thyroid Disease	Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hashimoto thyroiditis...	ORPHA:64744
Amaurosis-Hypertrichosis Syndrome	Synophrys, Coarse hair, Abnormal eyelash morphology, Thick eyebrow	ORPHA:1021
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the dentition, Alopecia, Abnormality of the tongue, Abnormal fingernail morphology...	ORPHA:659
Trichorhinophalangeal Syndrome Type 1	High palate, Abnormality of the dentition, Fragile nails, Sparse eyebrow, Leukonychia, Supernumer...	ORPHA:77258
Intellectual Developmental Disorder, Autosomal Recessive 5	Synophrys, Thick eyebrow, Smooth philtrum, Thick upper lip vermilion, Sparse hair, Short philtrum	OMIM:611091
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Thin vermilion border, Short philtrum, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Familial Gestational Hyperthyroidism	Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def...	ORPHA:99819
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Everted lower lip vermilion, Nail dystrophy, Sparse hair	OMIM:242300
Cowden Syndrome 5	Goiter, High palate, Hyperthyroidism, Hydrocele testis, Narrow mouth, Ovarian cyst, Hamartomatous...	OMIM:615108
Hyperthyroidism, Nonautoimmune	Goiter, Thyroid hyperplasia, Hyperthyroidism, Increased circulating free T3, Increased circulatin...	OMIM:609152
Bangstad Syndrome	Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus	OMIM:210740
Rodrigues Blindness	Sparse hair, Fine hair, Tooth malposition	OMIM:268320
Cowden Syndrome 7	Goiter, Hashimoto thyroiditis, Trichilemmoma, Papillary thyroid carcinoma, Intestinal polyposis, ...	OMIM:616858
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism	OMIM:188580
Complete Androgen Insensitivity Syndrome	Delayed puberty, Increased serum testosterone level, Absent axillary hair, Sparse axillary hair, ...	ORPHA:99429
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism	OMIM:268020
Zttk Syndrome	High palate, Abnormality of the dentition, Bifid uvula, Curly hair, Submucous cleft hard palate, ...	OMIM:617140
Koolen-De Vries Syndrome	Cryptorchidism, Abnormality of the dentition, Pyloric stenosis, Abnormal dental enamel morphology...	ORPHA:96169
Trichothiodystrophy 1, Photosensitive	Trichoschisis, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Fine hair, Brittle hair, M...	OMIM:601675
Xp22.13P22.2 Duplication Syndrome	High palate, Polycystic ovaries, High anterior hairline, Sparse hair, Macroorchidism	ORPHA:284180
Multiple Endocrine Neoplasia, Type Iib	High palate, Elevated calcitonin, Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Thic...	OMIM:162300
Thyrocerebroretinal Syndrome	Goiter	OMIM:274240
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Cryptorchidism, Abnormality of the dentition, Hypogonadism, Fine hair, Broad philt...	ORPHA:228390
Olmsted Syndrome 2	Sparse hair, Woolly hair, Cheilitis, Alopecia universalis	OMIM:619208
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	High palate, Nail dysplasia, Agenesis of permanent teeth, Short lingual frenulum, Fine hair, Micr...	OMIM:614091
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Tooth agenesis, Fragile nails, Gingival recession, Woolly hair, Leukonychia, Nail dystrophy	OMIM:615821
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Long philtrum, Hypothyroidism, Sparse hair, Thin upper lip vermilion	OMIM:617763
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Low posterior hairline, Tented upper lip vermilion, Downturned corners of mouth, Long ...	OMIM:619320
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Abnormal palate morphology, Uncombable hair, Slow-growing hair, Abnormal hair mor...	ORPHA:3082
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Bilateral breast hypoplasia, Decreased testicular size, Testicular atrophy, Spar...	ORPHA:52901
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Impaired sensitivity to thyroid stimulating hormone, Goiter, Compensated hypothyroi...	ORPHA:90673
Genetic Transient Congenital Hypothyroidism	Macroglossia, Goiter, Abnormal radioactive iodine uptake test result, Decreased circulating T4 co...	ORPHA:226316
Cowden Syndrome 6	Goiter, High palate, Hyperthyroidism, Hydrocele testis, Narrow mouth, Ovarian cyst, Hamartomatous...	OMIM:615109
Ciliary Dyskinesia, Primary, 37	Goiter, Hypothyroidism	OMIM:617577
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Goiter, Decreased circulating T4 concentration, Elevated circulating thyroid-stimul...	ORPHA:226313
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair, Abnormal palate morphology, Abnormal dental enamel morphology	ORPHA:3236
Tyshchenko Syndrome	High palate, Cryptorchidism, Thick hair, Supernumerary nipple, Low anterior hairline, Cleft palat...	OMIM:615102
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Fine hair, Sparse scalp hair	ORPHA:2324
Borjeson-Forssman-Lehmann Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Thick eyebrow, Sparse hair, Orofacial cleft	ORPHA:127
Craniolenticulosutural Dysplasia	High palate, Cryptorchidism, Bifid uvula, Hypoplasia of teeth, Brittle hair, Cleft palate, Coarse...	OMIM:607812
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Sparse lateral eyebrow, Supernumerary tooth, Smooth philtrum, Long philtrum, Spa...	OMIM:190351
Thyrocerebrorenal Syndrome	Euthyroid goiter	ORPHA:3327
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Cryptorchidism, Supernumerary nipple, Fine hair, Solitary median maxillary centra...	ORPHA:217346
Adult Syndrome	Toenail dysplasia, Nail pits, Abnormality of the dentition, Breast hypoplasia, Hypoplastic nipple...	ORPHA:978
Hallermann-Streiff Syndrome	Sparse body hair, Cryptorchidism, Abnormality of the dentition, Alopecia, Abnormality of the tong...	ORPHA:2108
Maffucci Syndrome	Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Ovarian neoplasm, Pitu...	ORPHA:163634
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Delayed puberty, Anal atresia, Abnormality of the dentition, Toot...	ORPHA:480880
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def...	ORPHA:424
Hamamy Syndrome	High palate, Cryptorchidism, Hypoparathyroidism, Low posterior hairline, Enamel hypoplasia, Evert...	OMIM:611174
Macs Syndrome	High palate, Cryptorchidism, Eclabion, Irregular dentition, Recurrent aphthous stomatitis, Alopec...	OMIM:613075
Joubert Syndrome 37	Sparse hair, Decreased testicular size, Cryptorchidism, High palate	OMIM:619185
Papillon-Lefèvre Syndrome	Sparse body hair, Abnormality of the dentition, Tooth agenesis, Gingivitis, Abnormality of the na...	ORPHA:678
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Sparse facial hair, Cryptorchidism, Abnormal eyebrow morphology, Breast hypoplas...	ORPHA:2232
Trichothiodystrophy 3, Photosensitive	Eclabion, Tiger tail banding, Trichorrhexis nodosa, Pyloric stenosis, Brittle hair, Bilateral cry...	OMIM:616395
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Tented upper lip vermilion, Long philtrum, Sparse hair, Short philtrum	OMIM:614105
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Tiger tail banding, Slow-growing hair	OMIM:616943
Cutis Laxa, Autosomal Recessive, Type Iia	High palate, Brittle hair, Abnormality of hair texture, Coarse hair, Narrow mouth, Long philtrum,...	OMIM:219200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse body hair, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair	ORPHA:69735
Sulfite Oxidase Deficiency, Isolated	Fine hair, Delayed eruption of teeth	OMIM:272300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Sparse body hair, Hypoplastic nipples, Brittle hair, Aplasia/Hypoplastia of the ec...	OMIM:305100
Waardenburg Syndrome Type 1	Synophrys, Premature graying of hair, Abnormal hair morphology, Thick eyebrow, Aganglionic megaco...	ORPHA:894
Ifap Syndrome 2	Sparse hair, Angular cheilitis, Atrichia, Nail dystrophy	OMIM:619016
Woodhouse-Sakati Syndrome	Decreased testicular size, Anodontia, Diabetes mellitus, Fine hair, Alopecia, Hypergonadotropic h...	OMIM:241080
Costello Syndrome	Macroglossia, Cryptorchidism, Abnormality of the dentition, Deep-set nails, Concave nail, Abnorma...	ORPHA:3071
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Hypoplasia of the ovary, Sparse body hair, Cryptorchidism, Decreased testicular ...	ORPHA:432
Skin fragility-woolly hair syndrome	Alopecia, Woolly hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes	OMIM:607655
Incontinentia Pigmenti	Conical tooth, Oligodontia, Nail pits, Nail dysplasia, Ridged nail, Breast hypoplasia, Onychogryp...	OMIM:308300
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Abnormality of the dentition, Alopecia	ORPHA:177
Holoprosencephaly 11	Synophrys, Cleft palate, Thick eyebrow, Cleft lip	OMIM:614226
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Thick hair, Bile duct proliferation, Alopecia, Enamel hypoplasia, Sparse eyebrow, Hy...	OMIM:607626
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Agenesis of permanent teeth, Small pituitary gland, Thick eyebrow, High anterior hairline, Narrow...	OMIM:619503
Androgen Insensitivity Syndrome	Delayed puberty, Cryptorchidism, Absent axillary hair, Sparse axillary hair, Absent pubic hair, T...	ORPHA:754
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Supernumerary nipple, Fine hair, Abnormal dental enamel morphology, Aplastic/hypo...	ORPHA:1812
Medullary Thyroid Carcinoma	Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Primary hyper...	ORPHA:1332
Orofaciodigital Syndrome Type 3	Abnormality of the dentition, Irregular dentition, Bifid uvula, Abnormality of hair texture, Hama...	ORPHA:2752
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Narrow mouth, Thin vermilion border	ORPHA:1745
Pallister-Hall Syndrome	Adrenal hypoplasia, Thyroid dysgenesis, Nail dysplasia, Cryptorchidism, Decreased testicular size...	OMIM:146510
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Tracheoesophageal fistula, Nodular goiter	ORPHA:142
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Neonatal death, Narrow mouth, Sparse eyebrow, Hydrocele testis	OMIM:618810
Cowden Syndrome 1	Goiter, High palate, Hyperthyroidism, Ovarian carcinoma, Hydrocele testis, Narrow mouth, Ovarian ...	OMIM:158350
Intellectual Disability, Buenos-Aires Type	High palate, Fine hair, Abnormality of dental morphology, Abnormal fingernail morphology, Dental ...	ORPHA:3079
Lamellar Ichthyosis	Abnormality of the dentition, Abnormality of the nail, Everted lower lip vermilion, Sparse hair, ...	ORPHA:313
Bathing Suit Ichthyosis	Sparse hair, Eclabion, Alopecia, Nail dystrophy	ORPHA:100976
Glass Syndrome	Conical tooth, Oligodontia, Long eyelashes, Nail dysplasia, High palate, Pierre-Robin sequence, C...	OMIM:612313
Netherton Syndrome	Trichorrhexis nodosa, Malabsorption, Fine hair, Sparse eyebrow, Abnormal hair morphology, Sparse ...	ORPHA:634
Costello Syndrome	Macroglossia, High palate, Pyloric stenosis, Curly hair, Deep-set nails, Concave nail, Fragile na...	OMIM:218040
Rothmund-Thomson Syndrome, Type 2	High palate, Cryptorchidism, Anteriorly placed anus, Hypogonadism, Agenesis of permanent teeth, H...	OMIM:268400
Oculodentodigital Dysplasia, Autosomal Recessive	Hypoplasia of teeth, Fine hair, Dental crowding, Narrow mouth, Hypoplasia of the primary teeth, L...	OMIM:257850
Short Syndrome	Abnormality of the dentition, Diabetes mellitus, Microdontia, Alopecia, Abnormal dental enamel mo...	ORPHA:3163
Cerebrofaciothoracic Dysplasia	Synophrys, Broad philtrum, Low posterior hairline, Thick eyebrow, Cleft palate, Coarse hair, Clef...	ORPHA:1394
Menkes Disease	Sparse hair, Brittle hair, Alopecia	OMIM:309400
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Nablus Mask-Like Facial Syndrome	High palate, Cryptorchidism, Abnormality of the dentition, Hypoplastic nipples, Low anterior hair...	OMIM:608156
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Tooth agenesis, Abnormal palate morphology, Abnormality of the dentition, Coarse ...	ORPHA:1786
Chromosome 5P13 Duplication Syndrome	High palate, Low posterior hairline, Downturned corners of mouth, Sparse hair, Short philtrum	OMIM:613174
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Cryptorchidism, High palate, Abnormality of the dentition, Agenesis of...	ORPHA:251028
Osteogenesis Imperfecta, Type Xx	High palate, Agenesis of permanent teeth, Tented upper lip vermilion, Highly arched eyebrow, Narr...	OMIM:618644
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Oculodentodigital Dysplasia	Premature loss of teeth, High palate, Selective tooth agenesis, Fine hair, Taurodontia, Fragile n...	OMIM:164200
Acrogeria	Fine hair	ORPHA:2500
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Alstrom Syndrome	Abnormality of the dentition, Gingivitis, Multinodular goiter, Diabetes insipidus, Decreased resp...	OMIM:203800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oligodontia, Misalignment of incisors, Brittle hair, Enamel hypoplasia, Cleft palate, Dental crow...	OMIM:619184
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Tracheoesophageal fistula, Sparse body hair, Abnormal palate morphology, Hypogonadotropic hypogon...	ORPHA:3068
Jaberi-Elahi Syndrome	Fine hair, Brittle hair, Sparse eyebrow, Triangular mouth, Sparse hair, Sparse eyelashes	OMIM:617988
Olmsted Syndrome 1	Nail dysplasia, Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:614594
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Fine hair, Wide mouth, Short philtrum, Thin upper lip vermilion, Widely-spaced maxil...	ORPHA:363686
Netherton Syndrome	Brittle hair, Villous atrophy, Sparse eyebrow, Intestinal atresia, Brittle scalp hair, Sparse sca...	OMIM:256500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Sparse facial hair	OMIM:608154
Chromosome 19Q13.11 Deletion Syndrome, Distal	Cryptorchidism, Nail dysplasia, Solitary median maxillary central incisor, Sparse eyebrow, Thin v...	OMIM:613026
Teebi-Shaltout Syndrome	Oligodontia, Low anterior hairline, Cleft palate, High, narrow palate, Highly arched eyebrow, Slo...	OMIM:272950
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Chronic monilial nail infection, Alopecia, Erythematous oral mucosa, Coarse hair,...	OMIM:158310
Lymphatic Malformation 5	Yellow nails, Cleft palate	OMIM:153200
Congenital Disorder Of Glycosylation, Type Iia	Open mouth, Long eyelashes, Diastema, Thick eyebrow, Everted lower lip vermilion, Macrodontia, Pr...	OMIM:212066
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Intestinal malrotation, Hashimoto thyroiditis, Abnormality of the ductu...	ORPHA:436252
Limb-Mammary Syndrome	Nail dysplasia, Bifid uvula, Hypoplastic nipples, Cleft palate, Hypodontia	OMIM:603543
Treacher-Collins Syndrome	Tooth agenesis, Absent eyelashes, Cleft palate, Narrow mouth, Rectovaginal fistula, Cleft upper l...	ORPHA:861
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Agenesis of permanent teeth, Ankyloglossia, Alopecia, Enamel hypop...	OMIM:311200
Marshall Syndrome	High palate, Abnormality of the dentition, Cleft palate, Sparse eyebrow, Long philtrum, Thick upp...	ORPHA:560
Mucopolysaccharidosis, Type Iiic	Synophrys, Everted lower lip vermilion, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Fine hair, Abnormality of the dentition, Abnormal fingernail morphology	ORPHA:1806
Macrocephaly/Autism Syndrome	Coarse hair, High palate, Long philtrum, Hydrocele testis	OMIM:605309
46,Xx Gonadal Dysgenesis	Delayed puberty, Decreased serum estradiol, Streak ovary, Increased circulating gonadotropin leve...	ORPHA:243
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair, Long philtrum, Smooth philtrum, Gingival overgrowth	OMIM:619428
Arthrogryposis And Ectodermal Dysplasia	Oligodontia, Nail dysplasia, Diabetes mellitus, Cleft palate, Absent eyebrow, Trichiasis, Abnorma...	OMIM:601701
Revesz Syndrome	Oral leukoplakia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Tooth Agenesis, Selective, 4	Sparse body hair, Tooth agenesis, Agenesis of permanent teeth, Short eyelashes, Dystrophic finger...	OMIM:150400
Bainbridge-Ropers Syndrome	High palate, Long eyelashes, Cryptorchidism, Synophrys, Supernumerary nipple, Thick eyebrow, Ever...	OMIM:615485
Adult Syndrome	Oligodontia, Nail pits, Breast hypoplasia, Sparse axillary hair, Hypoplastic nipples, Microdontia...	OMIM:103285
X-Linked Dominant Chondrodysplasia Punctata	High palate, Patchy alopecia, Abnormality of the nail, Coarse hair, Sparse eyebrow, Scarring alop...	ORPHA:35173
Ruijs-Aalfs Syndrome	Sparse hair, Premature graying of hair, Hypogonadism	OMIM:616200
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Goiter, Increased circulating prolactin concentration, Decreased circulating T4 con...	ORPHA:90674
Adiposis Dolorosa	Sparse axillary hair, Xerostomia, Sparse pubic hair, Hypothyroidism	ORPHA:36397
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Abnormality of the dentition, Odontogenic neoplasm, Brittle hair, ...	ORPHA:2750
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ...	ORPHA:91347
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Fine hair, Brittle hair, Submucous cleft hard palate, Type II diabetes mellitus,...	OMIM:618891
Dyskeratosis Congenita	Abnormal eyebrow morphology, Diabetes mellitus, Malabsorption, White hair, Periodontitis, Carious...	ORPHA:1775
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti...	OMIM:171400
Basel-Vanagaite-Smirin-Yosef Syndrome	High palate, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Sparse hair, ...	OMIM:616449
Scarf Syndrome	Cryptorchidism, Hypoplastic nipples, Low posterior hairline, Enamel hypoplasia, Long philtrum, Hy...	ORPHA:3134
Ogden Syndrome	Cryptorchidism, Fine hair, High, narrow palate, Everted upper lip vermilion, Aplasia/Hypoplasia o...	ORPHA:276432
Frontonasal Dysplasia 2	Conical tooth, Fine hair, Widely spaced teeth, Broad philtrum, Sparse eyebrow, Bilateral cryptorc...	OMIM:613451
Opitz-Kaveggia Syndrome	Anal atresia, Cryptorchidism, Anteriorly placed anus, Pyloric stenosis, Fine hair, Cleft palate, ...	OMIM:305450
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Goiter, Thyroid agenesis, Ectopic thyroid, Decreased circulating T4 concentration, ...	OMIM:218700
Eec Syndrome	Hypoplasia of the thymus, Nail pits, Tooth agenesis, Fine hair, Taurodontia, Xerostomia, Decrease...	ORPHA:1896
Trisomy 20P	Cryptorchidism, Abnormal palate morphology, Abnormality of the dentition, Thick hair, Low posteri...	ORPHA:261318
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Sparse body hair, Cryptorchidism, Decreased testicular size, Sparse axillary hai...	ORPHA:90796
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Reduced circulating growth hormone concentration, Malabsorption, Eosinophilic infiltration of the...	OMIM:615508
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Curly hair, Cleft palate, Downturned corners of mouth, Sparse eyebrow, Thin vermilio...	ORPHA:500150
Hallermann-Streiff Syndrome	High palate, Cryptorchidism, Selective tooth agenesis, Fine hair, Everted lower lip vermilion, Hi...	OMIM:234100
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Brittle hair, Dry hair, Nail dystrophy	ORPHA:93947
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Breast aplasi...	ORPHA:3044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Oligodontia, Selective tooth agenesis, Hypoplastic nipples, Cleft palate, Central diabetes insipi...	OMIM:129900
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Downturned corners of mouth, Thick vermilion border	ORPHA:1185
Dyskeratosis Congenita, Autosomal Dominant 1	Oral leukoplakia, Premature loss of teeth, Nail pits, Ridged nail, Premature graying of hair, Alo...	OMIM:127550
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Long philtrum	OMIM:619721
Cartilage-Hair Hypoplasia	Sparse facial hair, Esophageal atresia, Malabsorption, Fine hair, Aganglionic megacolon, Sparse e...	OMIM:250250
Branchiootorenal Syndrome 1	High palate, Bifid uvula, Branchial fistula, Microdontia, Cleft palate, Euthyroid goiter, Branchi...	OMIM:113650
Dyskeratosis Congenita, Autosomal Dominant 3	Oral leukoplakia, Nail dysplasia, Cryptorchidism, Fine hair, Premature graying of hair, Alopecia	OMIM:613990
Nicolaides-Baraitser Syndrome	Long eyelashes, Cryptorchidism, Hypertrichosis, Short lingual frenulum, Widely spaced teeth, Low ...	OMIM:601358
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Polycystic ovaries, Hirsutism, Type I diabetes mellitus, Premature thelarche	ORPHA:371428
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Pten Hamartoma Tumor Syndrome	Colon cancer, Multinodular goiter, Thyroid carcinoma, Thyroid adenoma, Multiple trichilemmomata	ORPHA:306498
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Pyloric stenosis, Fine hair, Thin vermilion border, Sparse hair	OMIM:614438
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Gorlin-Chaudhry-Moss Syndrome	Oligodontia, Abnormality of the dentition, Low anterior hairline, Coarse hair, Generalized hirsutism	ORPHA:2095
Koolen-De Vries Syndrome	Open mouth, Cryptorchidism, High palate, Pyloric stenosis, Widely spaced teeth, Cleft palate, Abn...	OMIM:610443
Cardiofaciocutaneous Syndrome	High palate, Cryptorchidism, Abnormal eyelash morphology, Fine hair, Brittle hair, Low posterior ...	ORPHA:1340
Monosomy 22	Open mouth, High palate, Synophrys, Long philtrum, Thin vermilion border, Sparse hair, Aplasia of...	ORPHA:96123
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Narrow mouth, Cryptorchidism	OMIM:219150
Familial Multinodular Goiter	Testicular seminoma, Multinodular goiter, Colorectal polyposis, Hyperthyroidism, Pilomatrixoma, T...	ORPHA:276399
Autosomal Recessive Faciodigitogenital Syndrome	High palate, Widow's peak, Deep philtrum, Everted lower lip vermilion, Coarse hair, Hypopigmentat...	ORPHA:1974
Mccune-Albright Syndrome	Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas...	ORPHA:562
Pediatric-Onset Graves Disease	Graves disease, Goiter, Puberty and gonadal disorders, Increased circulating free T3, Increased c...	ORPHA:525731
Gapo Syndrome	Nail dysplasia, Eruption failure, Breast hypoplasia, Hypoplastic nipples, Alopecia, High, narrow ...	OMIM:230740
Autosomal Recessive Cutis Laxa Type 2, Classic Type	High palate, Thick hair, Coarse hair, Long philtrum, Smooth philtrum, Carious teeth, Sparse hair	ORPHA:357074
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Abnormality of the thyroid gland, Hypoparathyroidism, Compensated hypothyroid...	ORPHA:209905
Familial Adenomatous Polyposis	Adenocarcinoma of the small intestine, Colorectal polyposis, Papillary thyroid carcinoma, Supernu...	ORPHA:733
Bone Marrow Failure Syndrome 3	Cryptorchidism, Amelogenesis imperfecta, Pancreatic steatosis, Microdontia, Enamel hypoplasia, Sm...	OMIM:617052
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Cryptorchidism, Tooth agenesis, Hypogonadism, Abnormality of the dentition, Abnor...	ORPHA:221008
Multiple Endocrine Neoplasia Type 1	Thymoma, Parathyroid carcinoma, Increased circulating cortisol level, Insulinoma, Increased serum...	ORPHA:652
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Breast aplasia, Abnormal fingernail morphology, Delayed eruption of...	ORPHA:2036
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Scarf Syndrome	Cryptorchidism, Hypoplastic nipples, Low posterior hairline, Low anterior hairline, Enamel hypopl...	OMIM:312830
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Bifid uvula, Submucous cleft hard palate, E...	ORPHA:3047
Cranioectodermal Dysplasia 3	Hypoplasia of teeth, Fine hair, Widely spaced teeth, Everted lower lip vermilion, Broad nail, Spa...	OMIM:614099
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Long eyelashes, High palate, Hypogonadism, Supernumerary nipple, Fine ...	ORPHA:261349
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, High palate, Dental crowding	OMIM:236200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Ridged nail, Trichorrhexis nodosa, Abnormality of the nail, Absent eyebrow, Sparse e...	ORPHA:1010
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia, Decreased response to growth hormone stimulation test, Narrow mouth, Hypothyroi...	OMIM:614114
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Abnormality of the dentition, Breast hypoplasia, Diabetes mellitus, Small nail, L...	OMIM:614813
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Bifid uvula, Hypoplastic nipples, Ankyloglossia, Broad philtrum, Thyroid hypoplas...	OMIM:620186
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Sparse hair, Conical incisor	OMIM:300291
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Tooth malposition, Diabetes mellitus, Hypothyroidism, Sparse hair	OMIM:616541
Rothmund-Thomson Syndrome	Nail dysplasia, Abnormality of the dentition, Selective tooth agenesis, Hypoplasia of teeth, Abno...	ORPHA:2909
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Abnormal dental enamel morphology, Alopecia, Abnormal toenail morphology	ORPHA:1005
Autosomal Dominant Popliteal Pterygium Syndrome	Cryptorchidism, Abnormality of the nail, Cleft palate, Non-midline cleft lip, Thin upper lip verm...	ORPHA:1300
Lateral Meningocele Syndrome	High palate, Cryptorchidism, Cleft palate, Dental crowding, Coarse hair, Long philtrum, Smooth ph...	OMIM:130720
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Hashimoto thyroiditis, Hypothyroidism	ORPHA:83601
Genitopatellar Syndrome	Cryptorchidism, Fine hair, Long philtrum, Delayed eruption of teeth, Sparse scalp hair	ORPHA:85201
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Small nail, High anterior hairline, Sparse eyebrow, Thick vermilion border, Sparse hair, Sparse e...	OMIM:250410
Thyroid Hypoplasia	Macroglossia, Thyroid hypoplasia, Hypothyroidism	ORPHA:95720
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Low anterior hairline, Dry hair, Hypothyroidism	OMIM:618569
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Alopecia universalis, Cheilitis, Anoperineal fistula, Abnormal tong...	ORPHA:158668
Thyroid Ectopia	Macroglossia, Abnormality of the thyroid gland, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Goldberg-Shprintzen Syndrome	Oligodontia, Synophrys, Thick eyebrow, Aganglionic megacolon, Everted lower lip vermilion, Highly...	OMIM:609460
Rothmund-Thomson Syndrome Type 2	High palate, Nail dysplasia, Cryptorchidism, Tooth agenesis, Abnormality of the dentition, Microd...	ORPHA:221016
Dubowitz Syndrome	High palate, Cryptorchidism, Abnormality of the dentition, Malabsorption, Hypoparathyroidism, Fin...	ORPHA:235
Chime Syndrome	Abnormality of the dentition, Fine hair, Abnormality of dental morphology, Microdontia, Cleft pal...	ORPHA:3474
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Aplasia of the sweat glands, Hypodontia, Sparse hair, Sparse scalp hair	OMIM:612132
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip...	ORPHA:888
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Long upper lip, Cleft palate	OMIM:615349
Galloway-Mowat Syndrome 9	Hiatus hernia, Coarse hair	OMIM:619603
46,Xy Sex Reversal 6	Sparse axillary hair, Dysgerminoma, Hirsutism	OMIM:613762
White-Sutton Syndrome	High palate, Bifid uvula, Cleft palate, Downturned corners of mouth, Thin vermilion border, Spars...	OMIM:616364
Adams-Oliver Syndrome	Aplastic/hypoplastic toenail, Alopecia, Esophageal varix, Hypoplastic fingernail, Absent fingerna...	ORPHA:974
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Fine hair, Taurodontia, Dental malocclusion, Sparse eyebrow, Long philtrum, Spars...	ORPHA:444072
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Abnormality of hair texture

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