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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Follicular 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
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Hypotrichosis 1
Abnormality of the nail, Abnormality of the dentition, Sparse eyelashes, Sparse body hair, Sparse... OMIM:605389
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Microdontia, Tooth agenesis, Abnormal dental morphology, Abnormal fingernail m... ORPHA:2722
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Abnormality of the dentition, Sparse eyelashes, Spars... OMIM:614238
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Hypodontia, Sparse hair OMIM:246500
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Woolly Hair Nevus
Woolly scalp hair, Curly hair, Widely-spaced incisors, Precocious puberty, Congenital posterior o... ORPHA:79414
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
Cardiofaciocutaneous Syndrome 2
High palate, Absent eyebrow, Curly hair, Sparse hair, Fine hair OMIM:615278
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Abnormality of the dentition, Reduced terminal:vellus... OMIM:601553
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Delayed eruption of teeth, Abnormality of the nail, Conical tooth, Abnorm... ORPHA:2228
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair, Cleft upper lip ORPHA:34217
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Conical primary incisor, Curly hair, Spar... OMIM:602400
Parc Syndrome
Alopecia, Absent eyelashes, Cleft palate, Absent eyebrow OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Gingivitis, Abnormality of the den... ORPHA:1008
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Witkop Syndrome
Microdontia of primary teeth, Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toe... OMIM:189500
Pili Torti
Brittle hair, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of hair tex... ORPHA:2889
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Abnormal dental morphology, Sparse body hair, Hypogonadism, Cryptorchidism ORPHA:85274
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Tooth Agenesis, Selective, 8
Sparse eyebrow, Selective tooth agenesis, Microdontia, Sparse hair OMIM:617073
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Microdontia, Sparse hair, Hypodontia, Fine hair, Cryptorchidism ORPHA:1174
Crandall Syndrome
Brittle hair, Abnormal testis morphology, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of t... ORPHA:202
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Conical tooth, Absent eyelashes, Absent eyebrow, Hypothyroidism, Spars... OMIM:618625
Blepharochalasis And Double Lip
Goiter OMIM:109900
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Anterior hypopituitarism, Delayed eruption of teeth, Everted lower l... ORPHA:181
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Chand Syndrome
Nail dysplasia, Commissural lip pit, Curly hair OMIM:214350
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Abnormal palate morphology, Thick lower lip vermilion, Curly eyelashes, Facial hi... ORPHA:163654
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal dental morphology, Sparse body hair, Abnormal toenail morph... ORPHA:1818
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Curly hair, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, ... OMIM:619980
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Everted lower lip vermilion, Woolly hair, Sparse hair OMIM:278200
Trichodental Dysplasia
Conical tooth, Slow-growing hair, Brittle hair, Sparse hair, Hypodontia, Fine hair, Odontodysplasia OMIM:601453
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Long eyelash... ORPHA:3363
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair, Dental malo... OMIM:619692
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Long philtrum, Thin upper lip vermilion, Widow's peak OMIM:606242
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Microdontia, Sparse eyelashes, Sparse eyebrow, Anodontia, Sparse ... OMIM:129490
Bamforth-Lazarus Syndrome
Abnormal hair quantity, Congenital hypothyroidism, Cleft palate, Thyroid agenesis ORPHA:1226
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Abnormality of t... OMIM:602032
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Long eyebrows, Long eyela... OMIM:275400
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thick lower lip vermilion, Everted lower lip vermilion, Synophrys, Curly hair, Sparse eyebrow, Wi... OMIM:620075
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal dental morphology, Hypoplasia of teeth, Abnormal fingernail mo... ORPHA:248
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Hawkinsinuria
Hypothyroidism, Fine hair, Sparse hair ORPHA:2118
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the denti... OMIM:614237
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes, Abnormal dental morphology, Spars... OMIM:615896
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair, Abnormality of the dentition ORPHA:500166
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Aredyld
Generalized hypotrichosis OMIM:207780
Intellectual Developmental Disorder, Autosomal Dominant 34
Widely spaced teeth, Synophrys, Curly hair, Smooth philtrum, Coarse hair OMIM:616351
Xq27.3Q28 Duplication Syndrome
Thin vermilion border, Decreased testicular size, Sparse body hair, Hypogonadism, Cryptorchidism ORPHA:261483
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Decreased response to growth hormone stimulation test, Absent eyebrow, Sparse ... OMIM:615280
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypothyroidism, Sparse eyebrow, Fi... ORPHA:1882
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Abnormality of the dentition, Sparse ey... OMIM:278150
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Low posterior hairline, Hypergonadotropic hypogonadism, Abnormality of the h... ORPHA:2183
Moynahan Syndrome
Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia, Distichiasis, Thick upper lip vermilion, Low anterior hairline, Sparse hair, Absent... OMIM:227260
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Thick upper lip vermilion, Downturned cor... ORPHA:79133
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Cleft palate, C... ORPHA:2890
Noonan Syndrome 5
Small nail, Curly hair, Sparse eyebrow, Wide mouth, Thick vermilion border, Fine hair, Cryptorchi... OMIM:611553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Leopard Syndrome 2
Thick lower lip vermilion, Curly hair OMIM:611554
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Everted lower lip vermilion, Onychogryposis of fingernail, Abnormal dental morphology, Ridged fin... ORPHA:2251
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Noonan Syndrome 6
Long eyebrows, Low posterior hairline, Curly hair, Sparse hair, Cryptorchidism OMIM:613224
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Abnormal dental morphology, Premature loss of primary teeth, Abnorm... ORPHA:1810
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Downturned corners of mouth, Wide mouth, Sparse hair, Cryptorchidism OMIM:273390
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Widely spaced teeth, Small nail, Conical tooth, Sparse scalp hair, Patchy alopecia, ... OMIM:613573
Björnstad Syndrome
Alopecia, Hypogonadism, Brittle hair ORPHA:123
Smith-Kingsmore Syndrome
Curly hair, Wide mouth, Open mouth, Smooth philtrum, Long philtrum, Cryptorchidism, Thin upper li... OMIM:616638
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Cardiofaciocutaneous Syndrome 3
Wide mouth, Curly hair OMIM:615279
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Ritscher-Schinzel Syndrome 4
Narrow palate, Short philtrum, High palate, Curly hair, Wide mouth, Thick vermilion border, Crypt... OMIM:619435
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Curly hair OMIM:616559
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Premature loss of primary teeth, Sparse hair, Aplasia/Hypoplasia of the eyebrow... ORPHA:50944
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... OMIM:224750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Wide mouth, Open mouth, Intestinal polyp, Long philtrum, Cryptorchidism ORPHA:457485
Eem Syndrome
Widely spaced teeth, Selective tooth agenesis, Sparse scalp hair, Microdontia, Absent eyebrow, Ab... ORPHA:1897
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Noonan Syndrome 14
High, narrow palate, Low posterior hairline, Curly hair, Sparse eyebrow, Wide mouth, Thick vermil... OMIM:619745
2Q32Q33 Microdeletion Syndrome
Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Decreased testicu... ORPHA:251019
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Onych... OMIM:275000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Short philtrum, Highly arched eyebrow, Short lingual frenulum, Narrow mout... OMIM:617360
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Hypertrichosis OMIM:201550
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short philtrum, High palate, Curly hair, Wide mouth, Thick vermilion border OMIM:300986
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, A... OMIM:129500
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars... OMIM:258360
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Uncombable hair, Abnormality of the dentition, Sparse hair ORPHA:1264
Carvajal Syndrome
Woolly hair ORPHA:65282
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Nicolaides-Baraitser Syndrome
Thin vermilion border, High, narrow palate, Curly eyelashes, Highly arched eyebrow, Everted lower... ORPHA:3051
Chromosome Xq27.3-Q28 Duplication Syndrome
Thin vermilion border, Decreased testicular size, Sparse body hair, Hypogonadism, Increased circu... OMIM:300869
Chops Syndrome
High, narrow palate, Thick hair, Synophrys, Long eyelashes, Curly hair, Downturned corners of mou... OMIM:616368
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Widely spaced teeth, Cholelithiasis, Thoracic hypertrichosis, Dental crowding, Hypop... OMIM:618268
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Oligodontia, Sparse eyelashes, Low anterior hairline, Thick vermilion border, Thin ... OMIM:617392
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Sparse body hair, Anonychia, Oral ... ORPHA:79402
Lessel-Kubisch Syndrome
Premature graying of hair, Narrow mouth, Sparse pubic hair, Hypogonadism OMIM:618681
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Frontal hirsutism, Abnorma... OMIM:272440
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo... ORPHA:1809
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Abnormality of the dentition, Angular cheilitis, Sparse eyelashes... OMIM:613102
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Small nail, Microdontia, Bifid uvula, Sparse ha... OMIM:129400
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Dermoodontodysplasia
Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Microdontia, Tooth agenesis, Sparse body h... ORPHA:1660
Noonan Syndrome 8
Cryptorchidism, Curly hair OMIM:615355
Gand Syndrome
Short philtrum, Wide mouth, Thin upper lip vermilion, Sparse hair OMIM:615074
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Noonan Syndrome 7
Thick vermilion border, Abnormal esophagus morphology, Low posterior hairline, Curly hair OMIM:613706
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow, Wide mouth, Thick vermilion border, Dental ma... OMIM:610733
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Oculodentodigital Dysplasia
Brittle hair, Abnormality of the nail, Slow-growing hair, Broad alveolar ridges, Abnormal dental ... ORPHA:2710
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Widely spaced teeth, Triangular mouth, Highly arched eyebrow, Slow-growin... OMIM:617506
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Conical tooth, Distichiasis, Anal atresia, Cl... OMIM:119580
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Bilateral cleft palate, Abnormal d... ORPHA:3253
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Curly hair ORPHA:85184
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Furrowed tongue, Sparse hair, Pili torti, Coarse hair OMIM:301845
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Sparse pubic hair, Sparse axillary hair, Cryptorchidism, Hypogonadotro... OMIM:146110
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Hypoplastic nipples, Abnormality of the dentition, Cleft upper lip, Sparse hair, Hypo... OMIM:273400
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Chand Syndrome
Nail dysplasia, Agenesis of maxillary incisor, Curly hair, Abnormal oral frenulum morphology, Com... ORPHA:1401
Ascher Syndrome
Hypothyroidism, Goiter, High palate, Abnormal upper lip morphology ORPHA:1253
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Abnormality of the philtrum, Progressive hypotrichosis, Microdontia... OMIM:225060
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Panhypopituitarism, Tiger tail banding, Decreased testicular siz... OMIM:300953
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Natal tooth, Thick vermilion border,... OMIM:601957
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Sparse hair ORPHA:2301
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Unilateral breast hypoplasia, Abnormality of the dentition, Low p... OMIM:304110
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Glossitis, Abnormal eyebrow morphology, Generalized h... ORPHA:2221
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/... ORPHA:1006
Focal Facial Dermal Dysplasia Type Iii
Short philtrum, Highly arched eyebrow, Distichiasis, Anal atresia, Sparse lateral eyebrow, Downtu... ORPHA:1807
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism, Sparse hair ORPHA:631
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma ORPHA:97290
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Abnormal toenail morphology, Cleft palate, Hypogonadotropic hypogonadism... ORPHA:494
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Slow-growing hair, Absent eyelashes, Open bite, High palate, Abnormality of ... OMIM:115150
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Elevated circulating follicle ... OMIM:300068
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia of the ey... ORPHA:2850
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Brittle hair, Highly arche... OMIM:617412
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Anal atr... ORPHA:884
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Fine hair, Alopecia ORPHA:1839
Carney Complex, Type 1
Thyroid carcinoma, Red hair, Pheochromocytoma, Hirsutism, Palatine myxoma, Pituitary adenoma, Ele... OMIM:160980
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Brittle hair, Narrow mouth, Woolly hair, Curly hair, Bifid uvula, Wide mout... OMIM:222470
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Abnormal dental enamel morphology, Oligodontia, Sparse scalp hair, Sp... ORPHA:59303
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Brittle hair, Oligodontia, Absent nipple, Everted lower lip vermilion, Sparse hair, ... OMIM:614940
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Conical tooth, Oligodontia, Everted lower lip vermilion, Microdontia... OMIM:224900
Naxos Disease
Nail dystrophy, Woolly hair, Curly hair, Onycholysis, Sparse body hair, Sparse eyebrow, Subungual... OMIM:601214
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Vulto-Van Silfhout-De Vries Syndrome
Thick lower lip vermilion, High palate, Horizontal eyebrow, Tented upper lip vermilion, Fine hair... OMIM:615828
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Natal tooth... OMIM:167210
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent ey... OMIM:614941
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Everted lower lip vermilion,... ORPHA:75389
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Pili torti, Brittle hair ORPHA:1573
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Widely spaced teeth, Hyperconvex fingernails, Delayed eruption of teeth, ... ORPHA:1071
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Craniofrontonasal Dysplasia
Orofacial cleft, Abnormality of hair texture, High palate, Abnormality of the dentition, Woolly h... ORPHA:1520
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair, Long philtrum, Thin upper lip ver... OMIM:619691
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... OMIM:234050
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Wide mouth, Sparse hair, Smooth philtrum, Thin upper lip vermilion OMIM:619989
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Uncombable hair, Woolly hair, Sparse hair, C... OMIM:614602
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Sparse hair, Broad philtrum, Cryptorchidism, Abnormal hair whorl ORPHA:2872
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Carious teeth, Sparse hair, Brittle hair ORPHA:1883
Johnson Neuroectodermal Syndrome
Absent eyelashes, Everted lower lip vermilion, Absent eyebrow, Carious teeth, Cleft palate, Spars... ORPHA:2316
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Lelis Syndrome
Nail dystrophy, Yellow nails, Furrowed tongue, Sparse lateral eyebrow, Carious teeth, Abnormal to... ORPHA:140936
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Oligodontia, Sparse eyelashes, Sparse lateral eyebrow, ... ORPHA:1787
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Small nail, Delayed eruption of teeth, Hirsutism, High... OMIM:614607
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Microdontia, Eclabion, Wide mouth, Short philtrum, Curly hair, Sparse lateral eyebrow, Horizontal... OMIM:619950
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Sh... ORPHA:247768
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Facial hirsutism, Thick hair, Highly arche... ORPHA:444077
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Everted lower lip vermilion, Microdontia, Abnormality of the d... ORPHA:1515
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair, Type II diabetes mellitus, Abnormality of the thyroi... ORPHA:2234
Progeroid Syndrome, Petty Type
Brittle hair, Abnormality of the nail, Abnormal hair morphology, Everted lower lip vermilion, Too... ORPHA:2963
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Oligodontia, Narrow mouth, Hypothyroidism, Downturned corners of mouth, Sparse h... OMIM:616817
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Premature loss of teeth, Multinodular goiter, Alopecia OMIM:618373
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, High palate, Brittle hair ORPHA:50812
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair, Hypodontia, Macroglossia OMIM:617396
Weaver Syndrome
Thin nail, Deep-set nails, Abnormal fingernail morphology, Hypoplastic toenails, Long philtrum, F... ORPHA:3447
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Short philtrum, Oligodontia, Narrow mouth, Synophrys, Hypothyroidism, Hypoplasia... ORPHA:391408
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, High palate, Sparse scalp hair, Long eyelashes, Curly hair, Sparse hair, Crypt... OMIM:607721
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Long eyelashes, Thick upper lip vermilion, Low anterior hairline... OMIM:617883
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Everted lower lip vermilion, Long eyelashes, Thick eyebrow, Low anterior hairline, Spa... OMIM:616819
Oligodontia-Colorectal Cancer Syndrome
Oligodontia, Fundic gland polyposis, Sparse scalp hair, Absent eyebrow, Sparse body hair, Short e... OMIM:608615
Noonan Syndrome 10
Sparse eyebrow, Cryptorchidism, High palate, Curly hair OMIM:616564
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Short philtrum, Highly arched eyebrow, Hirsutism, High palate, Woolly hair, Low an... OMIM:619244
Split-Hand/Foot Malformation 3
Nail dysplasia, Nail dystrophy, Ridged nail, High palate, Narrow mouth, Cleft palate OMIM:246560
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Premature loss of teeth, Carious teeth, Sparse hair, Oral leukoplakia, Alopecia OMIM:616353
Even-Plus Syndrome
Highly arched eyebrow, High palate, Anal atresia, Synophrys, Sparse hair, Hypodontia OMIM:616854
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Decreased circulating luteinizing hormone level, Testicular microlithiasis, Andr... OMIM:228300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Short philtrum, Scarring alopecia of scalp, Sparse lateral ... OMIM:617337
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Intestinal polyposis, Stomach cancer, Dystrophic to... ORPHA:2930
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308700
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Aredyld Syndrome
Advanced eruption of teeth, Abnormal dental enamel morphology, Narrow mouth, Sparse body hair, Ty... ORPHA:1133
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Bamforth-Lazarus Syndrome
Congenital hypothyroidism, Cleft palate, Thyroid agenesis OMIM:241850
Giant Axonal Neuropathy
Abnormal pituitary gland morphology, Pili canaliculi, Woolly hair ORPHA:643
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Adenoma sebaceum, Sparse or absent eyelashes, Brittle hair, Delayed eruption... ORPHA:3353
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Abnormality of dental color, ... ORPHA:251393
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Small nail, Narrow mouth, Decreased testicular size, Downturned corners of m... OMIM:300978
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Brittle hair, Dental crowding, Premature loss of teeth, High palate, Narrow mou... OMIM:608612
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Short philtrum, Long eyelashes, Downturned corners of mouth, Fine hair, T... ORPHA:231137
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Smooth tongue, Conical incisor, A... OMIM:257980
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Short philtrum, High palate, Tented upper lip vermilion, Sparse hair, Long philtrum OMIM:620001
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Brittle hair, Premature loss of teeth, High pal... ORPHA:50814
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Everted lower lip vermilion, Low posterior hairline, Cleft palate, Wide m... ORPHA:1912
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Highly arched eyebrow, Everted lower lip vermilion, Cleft palate, Tented upper li... OMIM:616898
Mandibuloacral Dysplasia
Hyperinsulinemia, Hypoplastic fingernail, Abnormal tongue morphology, Dental crowding, High palat... ORPHA:2457
Hall-Riggs Syndrome
Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Down... ORPHA:2107
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Delayed menarche, Testicular atrophy, Female hypogonadism, Gonadotropin deficien... ORPHA:52901
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Everted lower lip vermilion, Sparse hair, Alopecia OMIM:242300
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Fine hair, Sparse scalp hair ORPHA:90368
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Intellectual Developmental Disorder, Autosomal Recessive 5
Short philtrum, Synophrys, Thick upper lip vermilion, Thick eyebrow, Sparse hair, Smooth philtrum OMIM:611091
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Leukonychia, Long upper lip, High palate, Abnormality of the dentition, Spar... ORPHA:77258
Cowden Syndrome 7
Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Hashi... OMIM:616858
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, High palate, Sparse hair, Polycystic ovaries, Macroorchidism ORPHA:284180
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Cowden Syndrome 5
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism,... OMIM:615108
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Hypergonadotropic hypogonadism OMIM:268020
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Woolly hair, Sparse hair OMIM:619208
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
Rodrigues Blindness
Fine hair, Sparse hair, Tooth malposition OMIM:268320
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Dental crowding, Sparse lateral eyebrow, Sparse hair, Smooth philtrum, Long ... OMIM:190351
Zttk Syndrome
Thin vermilion border, Broad eyebrow, Intestinal atresia, Short philtrum, High palate, Abnormalit... OMIM:617140
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Intestinal obstruction, Triangular mouth, Small nail, Britt... OMIM:601675
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Hypothyroidism, Sparse hair, Long philtrum, Thin upper lip vermilion OMIM:617763
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Hypopigmentation of hair, Abnormal dental enamel morphology, ... ORPHA:96169
Intellectual Developmental Disorder, Autosomal Dominant 65
Short philtrum, Low posterior hairline, Synophrys, Downturned corners of mouth, Thick upper lip v... OMIM:619320
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Short uvula, Short lingual frenulum, High palate, Microdontia, Fused teeth, Cleft... OMIM:614091
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Abnormality of the dentition, Broad philtrum, Hypogonadism, Fine hair, Cryptorchid... ORPHA:228390
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... ORPHA:226313
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Pheochromocytoma, High pal... OMIM:162300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Gingival recession, Woolly hair, Tooth agenesis, Fragile nails OMIM:615821
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Abnormal hair morphology, Slow-growing hair, Uncombable hair, Aplasia... ORPHA:3082
Tyshchenko Syndrome
Narrow palate, High, narrow palate, Thick hair, High palate, Cleft palate, Low anterior hairline,... OMIM:615102
Cowden Syndrome 6
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism,... OMIM:615109
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair ORPHA:3236
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the dentition, Carious teeth, Abnormal fingernail morphology, Abnormal oral mucosa... ORPHA:659
Borjeson-Forssman-Lehmann Syndrome
Orofacial cleft, Decreased testicular size, Thick eyebrow, Hypogonadism, Sparse hair, Cryptorchidism ORPHA:127
Craniolenticulosutural Dysplasia
Brittle hair, Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid u... OMIM:607812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Absence of secondary sex characteristics, ... ORPHA:2232
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Thin vermilion border, Solitary median maxillary central incisor, Sparse or absen... ORPHA:217346
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Monosomy 18P
Short philtrum, Tooth malposition, Low posterior hairline, Hypothyroidism, Carious teeth, Downtur... ORPHA:1598
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the o... ORPHA:432
Macs Syndrome
Recurrent aphthous stomatitis, Gingival overgrowth, High palate, Irregular dentition, Eclabion, H... OMIM:613075
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Abnormal periodontium morphology, Tooth malposition, Cyst of the ductus choledoc... ORPHA:480880
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, High palate, Sparse hair OMIM:619185
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Hydrocele testis, Sparse body hair, Alopecia ORPHA:69735
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Abnormality of hair texture, High palate, Narrow mouth, Carious teeth, Long philtru... OMIM:219200
Ifap Syndrome 2
Angular cheilitis, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Noonan Syndrome 2
High palate, Low posterior hairline, Curly hair, Sparse eyebrow, Wide mouth, Long philtrum, Crypt... OMIM:605275
Hamamy Syndrome
Abnormal number of hair whorls, Hypoparathyroidism, Hypodontia, High palate, Everted lower lip ve... OMIM:611174
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Brittle hair, Meckel diverticulum, Tiger tail banding, Bilateral cryptorchi... OMIM:616395
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Short philtrum, Hypodontia, Narrow mouth, Synophrys, Long eyelashes, Hypoplasia of... OMIM:620250
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad... ORPHA:163634
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Widely spaced teeth, Conical tooth, Absent eyelashes, Selective tooth agenesis, P... OMIM:106260
Sulfite Oxidase Deficiency, Isolated
Fine hair, Delayed eruption of teeth OMIM:272300
Papillon-Lefèvre Syndrome
Nail dystrophy, Severe periodontitis, Periodontitis, Abnormality of the nail, Atrophy of alveolar... ORPHA:678
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Abnormality of hair texture, Glossoptosis, Abnormality ... ORPHA:2108
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, D... OMIM:241080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Dental crowding, Thyroid hypoplasia, Wide mouth, Decreased response to gro... OMIM:619503
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Brittle hair, Conical tooth, Hypodontia, Absent eyelashes, Hypoplast... OMIM:305100
Waardenburg Syndrome Type 1
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, Abnormal hair morphol... ORPHA:894
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Abnormal hair morphology, Abnormal dental enamel morpho... ORPHA:3071
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short philtrum, High palate, Tented upper lip vermilion, Sparse hair, Long philtrum OMIM:614105
Bathing Suit Ichthyosis
Eclabion, Nail dystrophy, Sparse hair, Alopecia ORPHA:100976
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, D... OMIM:308300
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Abnormality of the dentition, Alopecia ORPHA:177
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Tracheoesophageal fistula ORPHA:142
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Thick hair, Oligodontia, Bile duct proliferation, Sparse eyelashes, Enamel hypoplasia, Sparse eye... OMIM:607626
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Conical tooth, Inflammation of the large intestine, Sparse hair, Hypopituitarism ORPHA:98813
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Long philtrum, Leukonychia, Thin nail, Dental malocclusion, Delayed eruption of te... OMIM:190350
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Abnormal dental enamel morphology, Microdontia, Hypothyroidism, Cle... ORPHA:1812
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Abnormality of the dentition, Tooth agenesis, Carious ... ORPHA:1786
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Distal Duplication 6P
Thin vermilion border, Abnormal hair quantity, Abnormal eyelash morphology, Narrow mouth, Fine hair ORPHA:1745
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Holoprosencephaly 11
Cleft lip, Cleft palate, Thick eyebrow, Synophrys OMIM:614226
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Narrow mouth, Sparse eyebrow, Neonatal death, Hydrocele testis OMIM:618810
Glass Syndrome
Nail dysplasia, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High palate, Na... OMIM:612313
Lamellar Ichthyosis
Abnormality of the nail, Abnormality of the dentition, Everted lower lip vermilion, Sparse hair, ... ORPHA:313
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Hyperconvex thumb nails, Open bite, High palate, Abnormal dental morphology,... ORPHA:3079
Cowden Syndrome 1
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism,... OMIM:158350
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Synophrys, Cleft upper lip, Cleft palate, Abnormal hair pattern, Thick ey... ORPHA:1394
Costello Syndrome
Thick lower lip vermilion, Thin nail, High palate, Curly hair, Deep-set nails, Pyloric stenosis, ... OMIM:218040
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Supernumerary tooth, Nail dystrophy, Annular pancreas, Delayed eruptio... OMIM:268400
Chromosome 5P13 Duplication Syndrome
Short philtrum, High palate, Low posterior hairline, Downturned corners of mouth, Sparse hair OMIM:613174
Osteogenesis Imperfecta, Type Xx
Narrow palate, Highly arched eyebrow, High palate, Sparse lateral eyebrow, Tented upper lip vermi... OMIM:618644
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, High palate, Everted lower lip verm... OMIM:608156
Short Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Microdontia, Sparse hair, Diabet... ORPHA:3163
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Dental malocclusion, Delayed eruption of ... OMIM:257850
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Abnormal hair morphology, Cleft upper lip, Cleft palate OMIM:607597
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short philtrum, Dental malocclusion, Dental crowding, High palate, Abnormality of the dentition, ... ORPHA:251028
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Oculodentodigital Dysplasia
Slow-growing hair, Broad alveolar ridges, Premature loss of teeth, Selective tooth agenesis, High... OMIM:164200
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Pallister-Hall Syndrome
Nail dysplasia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhyp... OMIM:146510
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Sparse eyelashes, Cleft palate, Delay... OMIM:616367
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Narrow mouth, Sparse hair, Synophrys OMIM:620458
Treacher-Collins Syndrome
Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Abnormal... ORPHA:861
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Netherton Syndrome
Brittle hair, Sparse scalp hair, Brittle scalp hair, Sparse eyebrow, Intestinal atresia, Villous ... OMIM:256500
Acrogeria
Fine hair ORPHA:2500
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Delayed puberty, Sparse pubic hair, Decreased serum estradi... ORPHA:243
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Short philtrum, High palate, Wide mouth, Fine hair, Thin upper lip vermilion, Widely-spaced maxil... ORPHA:363686
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Sparse pubic hair, Sparse axillary hair ORPHA:36397
Mucopolysaccharidosis, Type Iiic
Hirsutism, Everted lower lip vermilion, Synophrys, Hypertrichosis, Coarse hair OMIM:252930
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Tiger tail banding, Brittle hair OMIM:616943
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Furrowed tongue, Erythematous or... OMIM:158310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequenc... OMIM:619184
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Gingival overgrowth, Synophrys, Smooth philtrum, Long philtrum, Fine hair OMIM:619428
Frontonasal Dysplasia 2
Widely spaced teeth, Conical tooth, Bilateral cryptorchidism, Sparse eyelashes, Tessier number 13... OMIM:613451
Jaberi-Elahi Syndrome
Triangular mouth, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis OMIM:614594
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Sparse scalp hair, Sparse eyelashes, Sparse eyebr... ORPHA:634
Lymphatic Malformation 5
Yellow nails, Cleft palate OMIM:153200
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Sparse body hair, Hypogonadotropic hypogonadism, Tracheoesophageal fi... ORPHA:3068
Limb-Mammary Syndrome
Nail dysplasia, Hypoplastic nipples, Cleft palate, Bifid uvula, Hypodontia OMIM:603543
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Thin vermilion border, Solitary median maxillary central incisor, Short philtrum,... OMIM:613026
Orofaciodigital Syndrome I
Supernumerary tooth, High palate, Ankyloglossia, Alveolar ridge overgrowth, Agenesis of permanent... OMIM:311200
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Gingival overgrowth, Hirsutism, Everted lower lip vermilion, Protruding to... OMIM:212066
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Alopecia of scalp, Rectal abscess, Hypoplasia of the thymus, Absent eyebrow, Inte... ORPHA:436252
Teebi-Shaltout Syndrome
High, narrow palate, Highly arched eyebrow, Slow-growing hair, Oligodontia, Narrow mouth, Promine... OMIM:272950
Macrocephaly/Autism Syndrome
Long philtrum, High palate, Coarse hair, Hydrocele testis OMIM:605309
Marshall Syndrome
Thick lower lip vermilion, High palate, Abnormality of the dentition, Sparse eyelashes, Sparse ey... ORPHA:560
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Fine hair, Abnormality of the dentition, Sparse hair ORPHA:1806
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Trichiasis, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Abse... OMIM:601701
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed puberty, Brittle hair, Type II diabetes mellitus, Sparse hair, Submucous cleft hard palat... OMIM:618891
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, High palate, Patchy alopecia, Sparse eyelash... ORPHA:35173
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Tooth agenesis, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:605676
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Dental crowding, Gingival overgrowth, Hirsutism, High palate, Everted lowe... OMIM:615485
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Orofacial cleft, Oligodontia, Hypoplastic nipples, Sparse s... OMIM:103285
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Sparse hair OMIM:616200
Ogden Syndrome
High, narrow palate, Everted upper lip vermilion, Aplasia/Hypoplasia of the eyebrow, Fine hair, C... ORPHA:276432
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcito... OMIM:171400
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Dyst... OMIM:150400
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyroid crisis... ORPHA:91347
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Cleft palate, Tented u... OMIM:616449
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Brittle hair, Lip pit, Broad alveolar ridges, Abnormal dental enamel morpho... ORPHA:2750
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail... ORPHA:1775
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Enamel hypoplasia, Sparse hair, Long philtrum, Crypt... ORPHA:3134
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Macroglossia, Dry hair, Brittle hair ORPHA:93947
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Broad lateral eyebrow, Curly hair, Sparse eyebrow, Cleft p... ORPHA:500150
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Trisomy 20P
Abnormal palate morphology, Thin vermilion border, Thick hair, Short philtrum, Highly arched eyeb... ORPHA:261318
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Thick lower lip vermilion, Dental crowding, Anal atresia, Cryptorch... OMIM:305450
Eec Syndrome
Orofacial cleft, Nail dystrophy, Decreased response to growth hormone stimulation test, Anterior ... ORPHA:1896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, High, narrow palate, Supernumerary tooth, Dental malocclusi... OMIM:234100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Reduced circulating growth hormone concentration, Spa... OMIM:615508
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Microdontia, Sparse axillary hair, Sparse hair, Decreased response to growth horm... OMIM:129900
Down Syndrome
Narrow palate, Delayed puberty, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, A... ORPHA:870
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Sparse pubic hair, Elevated circulating luteinizing ho... ORPHA:3044
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Notched primary central inci... OMIM:620519
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Long philtrum, Sparse hair, Hyperconvex nail OMIM:619721
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Abnormality of hair texture, High palate, Everted lower lip v... OMIM:610443
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Thyroid hemia... ORPHA:209905
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Branchiootorenal Syndrome 1
Euthyroid goiter, Increased overbite, High palate, Microdontia, Intestinal malrotation, Bifid uvu... OMIM:113650
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th... ORPHA:95712
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Thick vermilion border, Coarse hair ORPHA:1185
Nicolaides-Baraitser Syndrome
Long philtrum, High, narrow palate, Thick lower lip vermilion, Widely spaced teeth, Short lingual... OMIM:601358
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Nail dystrophy, Ridged nail, Premature loss of teeth, Carious teeth, N... OMIM:127550
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin vermilion border, Pyloric stenosis, Sparse hair, Fine hair, Cryptorchidism OMIM:614438
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia, Sparse eyelashes, Sparse eyebrow, Spars... OMIM:250250
Monosomy 22
Thin vermilion border, Aplasia of the thymus, High palate, Synophrys, Sparse hair, Open mouth, Lo... ORPHA:96123
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal eye... ORPHA:1340
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, High palate, Carious teeth, Sparse hair, Smooth philtrum, Long philtrum, Coarse hair ORPHA:357074
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Narrow mouth, Sparse hair OMIM:219150
Garg-Mishra Progeroid Syndrome
Dental crowding, Sparse hair, Small nail OMIM:620601
Mccune-Albright Syndrome
Increased serum testosterone level, Dental malocclusion, Macroorchidism, Abnormal testis morpholo... ORPHA:562
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Colorectal polyposis, Pilomatrixoma, Testicular seminoma, Mu... ORPHA:276399
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Thyrotoxicosis with diffus... ORPHA:525731
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Open bite, High palate, Everted lower lip vermilion, Wide mou... ORPHA:1974
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, High, narrow palate, Thick lower lip vermilion, Eruption failu... OMIM:230740
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Cleft palate, N... ORPHA:158687
Revesz Syndrome
Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Oral leukoplakia, Fine hair OMIM:268130
Familial Adenomatous Polyposis
Eruption failure, Odontoma, Pituitary adenoma, Duodenal adenocarcinoma, Multiple gastric polyps, ... ORPHA:733
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Sparse hair, Alopecia OMIM:242150
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Nail dystrophy, Hyperechogenic pancreas, Small nail, Oral ulcer, Microdo... OMIM:617052
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid agenesis, Neoplasm of the tongue, Thyroid hypoplasia, Hypothyroidism, Bifid uvula, Submuc... ORPHA:3047
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary... ORPHA:652
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Enamel hypoplasia, Low anterior hairline, Sparse hai... OMIM:312830
ERI1-related disease
High palate, Velopharyngeal insufficiency, Low anterior hairline, Anonychia, Sparse hair OMIM:608739
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition, Abnormal fingernail morp... ORPHA:2036
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Narrow mouth, Hypothyroidism, Sparse hair,... OMIM:614114
Cranioectodermal Dysplasia 3
Widely spaced teeth, Broad nail, Everted lower lip vermilion, Hypoplasia of teeth, Short nail, Sp... OMIM:614099
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Dental crowding, High palate, Brittle hair OMIM:236200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... ORPHA:1010
2P15P16.1 Microdeletion Syndrome
High palate, Everted lower lip vermilion, Narrow mouth, Long eyelashes, Decreased testicular size... ORPHA:261349
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Small nail, Aplasia of the thymus, Hypoplastic nipples, Thyroid hypoplasia, Absen... OMIM:620186
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Breast hypoplasia, Small nail, Abnormality of the dentition, Sparse hair, Long ph... OMIM:614813
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse or absent eyelashes, Delayed eruption of teeth, Abnormal dental enamel mor... ORPHA:221008
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Hypothyroidism, Diabetes mellitus, Sparse hair, Cryptorchidism OMIM:616541
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormality of the nail, Non-midline cleft of the upper lip, Cleft palate, Generalized hirsutism,... ORPHA:1300
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Low anterior hairline, Dry hair OMIM:618569
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Premature graying of hair, Nail dystrophy, Oral leukoplakia, Fine hair, Cryptorch... OMIM:613990
Lateral Meningocele Syndrome
Dental crowding, High palate, Cleft palate, Smooth philtrum, Long philtrum, Cryptorchidism, Coars... OMIM:130720
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Thick vermilion border, Spa... OMIM:250410
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Microdontia, Bilateral cryptorchi... OMIM:242900
Thyroid Hypoplasia
Hypothyroidism, Macroglossia, Thyroid hypoplasia ORPHA:95720
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Long philtrum, Fine hair, Cryptorchidism ORPHA:85201
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short philtrum, Highly arched eyebrow, Oligodontia, Everted lower lip verm... OMIM:609460
Ectodermal Dysplasia And Immunodeficiency 2
Conical tooth, Sparse scalp hair, Sparse hair, Hypodontia, Aplasia of the sweat glands OMIM:612132
Rothmund-Thomson Syndrome
Nail dysplasia, Supernumerary tooth, Small nail, Abnormality of the nail, Delayed eruption of tee... ORPHA:2909
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the de... ORPHA:158668
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Long upper lip, Cleft palate, Sparse hair OMIM:615349
46,Xy Sex Reversal 6
Dysgerminoma, Hirsutism, Sparse axillary hair OMIM:613762
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Sparse eyebrow, Sparse hair, Long philtrum, Fine hair, Cryptorchidism, Macro... ORPHA:444072
Galloway-Mowat Syndrome 9
Hiatus hernia, Coarse hair OMIM:619603
Chime Syndrome
Supernumerary tooth, Short philtrum, Abnormality of the dentition, Microdontia, Abnormal dental m...