Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis		130
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8		41
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		86
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		56
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B		169
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011119	HP:0011119	Abnormal nasal dorsum morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011119	HP:0000457	Depressed nasal ridge	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0011119	HP:0000457	Depressed nasal ridge	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent	130
HP:0011119	HP:0003683	Large beaked nose	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0011119	HP:0000418	Narrow nasal ridge	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0011119	HP:0000418	Narrow nasal ridge	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0011119	HP:0000444	Convex nasal ridge	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0011119	HP:0000444	Convex nasal ridge	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0011119	HP:0000457	Depressed nasal ridge	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0011119	HP:0012811	Wide nasal ridge	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0011119	HP:0012811	Wide nasal ridge	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	HP:0040283 - Occasional	132
HP:0011119	HP:0012811	Wide nasal ridge	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0011119	HP:0000444	Convex nasal ridge	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0011119	HP:0000457	Depressed nasal ridge	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0011119	HP:0003683	Large beaked nose	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0011119	HP:0000444	Convex nasal ridge	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0011119	HP:0003683	Large beaked nose	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0011119	HP:0000444	Convex nasal ridge	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0011119	HP:0000444	Convex nasal ridge	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	HP:0040283 - Occasional	168
HP:0011119	HP:0000444	Convex nasal ridge	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0011119	HP:0000444	Convex nasal ridge	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0011119	HP:0000444	Convex nasal ridge	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0011119	HP:0000457	Depressed nasal ridge	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0011119	HP:0000457	Depressed nasal ridge	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0011119	HP:0000444	Convex nasal ridge	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0011119	HP:0000457	Depressed nasal ridge	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0011119	HP:0000457	Depressed nasal ridge	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0011119	HP:0000457	Depressed nasal ridge	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011119	HP:0000444	Convex nasal ridge	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0011119	HP:0000444	Convex nasal ridge	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent	13
HP:0011119	HP:0011120	Concave nasal ridge	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0011119	HP:0000457	Depressed nasal ridge	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0011119	HP:0000418	Narrow nasal ridge	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011119	HP:0000457	Depressed nasal ridge	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0011119	HP:0000457	Depressed nasal ridge	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0011119	HP:0000457	Depressed nasal ridge	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0011119	HP:0000457	Depressed nasal ridge	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0011119	HP:0000457	Depressed nasal ridge	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0011119	HP:0000444	Convex nasal ridge	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0011119	HP:0000444	Convex nasal ridge	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0011119	HP:0003683	Large beaked nose	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011119	HP:0000444	Convex nasal ridge	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0011119	HP:0000444	Convex nasal ridge	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.	146
HP:0011119	HP:0003683	Large beaked nose	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0011119	HP:0000457	Depressed nasal ridge	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0011119	HP:0000418	Narrow nasal ridge	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0011119	HP:0000457	Depressed nasal ridge	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0011119	HP:0000457	Depressed nasal ridge	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0011119	HP:0000457	Depressed nasal ridge	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0011119	HP:0000457	Depressed nasal ridge	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0011119	HP:0000418	Narrow nasal ridge	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011119	HP:0000457	Depressed nasal ridge	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011119	HP:0000444	Convex nasal ridge	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0011119	HP:0000444	Convex nasal ridge	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0011119	HP:0000444	Convex nasal ridge	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0011119	HP:0000444	Convex nasal ridge	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0011119	HP:0000444	Convex nasal ridge	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0011119	HP:0000418	Narrow nasal ridge	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011119	HP:0000418	Narrow nasal ridge	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0011119	HP:0000444	Convex nasal ridge	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0011119	HP:0000457	Depressed nasal ridge	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011119	HP:0000444	Convex nasal ridge	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011119	HP:0000444	Convex nasal ridge	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0011119	HP:0000444	Convex nasal ridge	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0011119	HP:0000444	Convex nasal ridge	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011119	HP:0000457	Depressed nasal ridge	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0011119	HP:0000444	Convex nasal ridge	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011119	HP:0000444	Convex nasal ridge	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0011119	HP:0000457	Depressed nasal ridge	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0011119	HP:0000457	Depressed nasal ridge	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0011119	HP:0000457	Depressed nasal ridge	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0011119	HP:0000457	Depressed nasal ridge	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0011119	HP:0011120	Concave nasal ridge	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0011119	HP:0000444	Convex nasal ridge	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0011119	HP:0000444	Convex nasal ridge	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0011119	HP:0000444	Convex nasal ridge	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0011119	HP:0000444	Convex nasal ridge	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011119	HP:0000457	Depressed nasal ridge	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0011119	HP:0011120	Concave nasal ridge	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0011119	HP:0000457	Depressed nasal ridge	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0011119	HP:0000457	Depressed nasal ridge	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0011119	HP:0000457	Depressed nasal ridge	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	86
HP:0011119	HP:0000457	Depressed nasal ridge	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	56
HP:0011119	HP:0000444	Convex nasal ridge	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0011119	HP:0000444	Convex nasal ridge	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0011119	HP:0000444	Convex nasal ridge	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011119	HP:0000444	Convex nasal ridge	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0011119	HP:0000444	Convex nasal ridge	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0011119	HP:0000444	Convex nasal ridge	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2	.	106
HP:0011119	HP:0003683	Large beaked nose	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0011119	HP:0000444	Convex nasal ridge	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0011119	HP:0000444	Convex nasal ridge	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0011119	HP:0000457	Depressed nasal ridge	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0011119	HP:0000418	Narrow nasal ridge	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011119	HP:0011120	Concave nasal ridge	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0011119	HP:0000457	Depressed nasal ridge	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional	145
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0011119	HP:0000444	Convex nasal ridge	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011119	HP:0000418	Narrow nasal ridge	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011119	HP:0000457	Depressed nasal ridge	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0011119	HP:0011120	Concave nasal ridge	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0011119	HP:0000457	Depressed nasal ridge	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0011119	HP:0000457	Depressed nasal ridge	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0011119	HP:0000457	Depressed nasal ridge	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0011119	HP:0000457	Depressed nasal ridge	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0011119	HP:0000457	Depressed nasal ridge	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0011119	HP:0000457	Depressed nasal ridge	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0011119	HP:0000457	Depressed nasal ridge	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0011119	HP:0000457	Depressed nasal ridge	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0011119	HP:0000457	Depressed nasal ridge	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0011119	HP:0000457	Depressed nasal ridge	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0011119	HP:0000444	Convex nasal ridge	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0011119	HP:0000457	Depressed nasal ridge	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0011119	HP:0000418	Narrow nasal ridge	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011119	HP:0012811	Wide nasal ridge	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0011119	HP:0000418	Narrow nasal ridge	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0011119	HP:0000457	Depressed nasal ridge	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0011119	HP:0000457	Depressed nasal ridge	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0011119	HP:0011120	Concave nasal ridge	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0011119	HP:0003683	Large beaked nose	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0011119	HP:0011120	Concave nasal ridge	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0011119	HP:0000444	Convex nasal ridge	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0011119	HP:0011120	Concave nasal ridge	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011119	HP:0000444	Convex nasal ridge	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0011119	HP:0000457	Depressed nasal ridge	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0011119	HP:0011120	Concave nasal ridge	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0011119	HP:0000457	Depressed nasal ridge	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	1
HP:0011119	HP:0011120	Concave nasal ridge	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0011119	HP:0000444	Convex nasal ridge	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011119	HP:0000444	Convex nasal ridge	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011119	HP:0000457	Depressed nasal ridge	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0011119	HP:0003683	Large beaked nose	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0011119	HP:0000457	Depressed nasal ridge	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0011119	HP:0000444	Convex nasal ridge	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0011119	HP:0000418	Narrow nasal ridge	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0011119	HP:0000444	Convex nasal ridge	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0011119	HP:0000418	Narrow nasal ridge	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0011119	HP:0000418	Narrow nasal ridge	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0011119	HP:0000444	Convex nasal ridge	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0011119	HP:0000444	Convex nasal ridge	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0011119	HP:0000444	Convex nasal ridge	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0011119	HP:0003683	Large beaked nose	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000444	Convex nasal ridge	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011119	HP:0000457	Depressed nasal ridge	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0011119	HP:0000457	Depressed nasal ridge	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0011119	HP:0000444	Convex nasal ridge	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0011119	HP:0000444	Convex nasal ridge	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0011119	HP:0012811	Wide nasal ridge	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011119	HP:0000444	Convex nasal ridge	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0011119	HP:0000457	Depressed nasal ridge	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0011119	HP:0000457	Depressed nasal ridge	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0011119	HP:0012811	Wide nasal ridge	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011119	HP:0000418	Narrow nasal ridge	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011119	HP:0000457	Depressed nasal ridge	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0011119	HP:0000457	Depressed nasal ridge	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0011119	HP:0000444	Convex nasal ridge	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0011119	HP:0000444	Convex nasal ridge	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0011119	HP:0011120	Concave nasal ridge	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0011119	HP:0000444	Convex nasal ridge	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0011119	HP:0000457	Depressed nasal ridge	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0011119	HP:0000418	Narrow nasal ridge	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0011119	HP:0000444	Convex nasal ridge	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0011119	HP:0000444	Convex nasal ridge	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0011119	HP:0000444	Convex nasal ridge	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0011119	HP:0000457	Depressed nasal ridge	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0011119	HP:0000457	Depressed nasal ridge	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0011119	HP:0000444	Convex nasal ridge	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0011119	HP:0000457	Depressed nasal ridge	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0011119	HP:0000457	Depressed nasal ridge	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0011119	HP:0011120	Concave nasal ridge	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011119	HP:0000444	Convex nasal ridge	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0011119	HP:0000457	Depressed nasal ridge	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0011119	HP:0000457	Depressed nasal ridge	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0011119	HP:0000457	Depressed nasal ridge	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0011119	HP:0000457	Depressed nasal ridge	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0011119	HP:0000444	Convex nasal ridge	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0011119	HP:0000444	Convex nasal ridge	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0011119	HP:0000444	Convex nasal ridge	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0011119	HP:0000418	Narrow nasal ridge	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0011119	HP:0003683	Large beaked nose	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0011119	HP:0012811	Wide nasal ridge	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0011119	HP:0000444	Convex nasal ridge	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011119	HP:0000457	Depressed nasal ridge	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0011119	HP:0011120	Concave nasal ridge	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0011119	HP:0000444	Convex nasal ridge	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011119	HP:0000457	Depressed nasal ridge	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0011119	HP:0000457	Depressed nasal ridge	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0011119	HP:0000457	Depressed nasal ridge	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0011119	HP:0000457	Depressed nasal ridge	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0011119	HP:0000457	Depressed nasal ridge	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0011119	HP:0000444	Convex nasal ridge	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0011119	HP:0000457	Depressed nasal ridge	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0011119	HP:0000457	Depressed nasal ridge	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0011119	HP:0000457	Depressed nasal ridge	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0011119	HP:0000457	Depressed nasal ridge	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0011119	HP:0000457	Depressed nasal ridge	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0011119	HP:0000444	Convex nasal ridge	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0011119	HP:0000418	Narrow nasal ridge	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0011119	HP:0000418	Narrow nasal ridge	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0011119	HP:0000444	Convex nasal ridge	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0011119	HP:0000457	Depressed nasal ridge	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0011119	HP:0000457	Depressed nasal ridge	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0011119	HP:0000444	Convex nasal ridge	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0011119	HP:0000457	Depressed nasal ridge	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0011119	HP:0000444	Convex nasal ridge	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0011119	HP:0003683	Large beaked nose	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0011119	HP:0000444	Convex nasal ridge	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0011119	HP:0003683	Large beaked nose	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0011119	HP:0003683	Large beaked nose	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0011119	HP:0003683	Large beaked nose	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000457	Depressed nasal ridge	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0011119	HP:0000457	Depressed nasal ridge	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0011119	HP:0012811	Wide nasal ridge	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0011119	HP:0000457	Depressed nasal ridge	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0011119	HP:0000444	Convex nasal ridge	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0011119	HP:0003683	Large beaked nose	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0011119	HP:0000444	Convex nasal ridge	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0011119	HP:0000444	Convex nasal ridge	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0011119	HP:0000444	Convex nasal ridge	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0011119	HP:0011120	Concave nasal ridge	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0011119	HP:0000457	Depressed nasal ridge	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0011119	HP:0000457	Depressed nasal ridge	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0011119	HP:0000457	Depressed nasal ridge	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0011119	HP:0000457	Depressed nasal ridge	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0011119	HP:0000457	Depressed nasal ridge	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0011119	HP:0000457	Depressed nasal ridge	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011119	HP:0000444	Convex nasal ridge	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011119	HP:0000444	Convex nasal ridge	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0011119	HP:0000457	Depressed nasal ridge	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0011119	HP:0011120	Concave nasal ridge	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011119	HP:0000418	Narrow nasal ridge	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0011119	HP:0000457	Depressed nasal ridge	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0011119	HP:0000457	Depressed nasal ridge	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional	94
HP:0011119	HP:0011120	Concave nasal ridge	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0011119	HP:0000457	Depressed nasal ridge	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0011119	HP:0000457	Depressed nasal ridge	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0011119	HP:0000457	Depressed nasal ridge	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0011119	HP:0000457	Depressed nasal ridge	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0011120	Concave nasal ridge	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0011119	HP:0000457	Depressed nasal ridge	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0011119	HP:0000457	Depressed nasal ridge	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0011119	HP:0000457	Depressed nasal ridge	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0011119	HP:0000457	Depressed nasal ridge	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0011119	HP:0012811	Wide nasal ridge	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0011119	HP:0000444	Convex nasal ridge	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0011119	HP:0000444	Convex nasal ridge	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0011119	HP:0012811	Wide nasal ridge	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0011119	HP:0000457	Depressed nasal ridge	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0011119	HP:0000457	Depressed nasal ridge	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0011119	HP:0000457	Depressed nasal ridge	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0011119	HP:0000457	Depressed nasal ridge	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0011119	HP:0000457	Depressed nasal ridge	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0011119	HP:0000457	Depressed nasal ridge	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0011119	HP:0000457	Depressed nasal ridge	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0011119	HP:0000457	Depressed nasal ridge	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0011119	HP:0000457	Depressed nasal ridge	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0011119	HP:0000457	Depressed nasal ridge	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0011119	HP:0000457	Depressed nasal ridge	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0011119	HP:0000457	Depressed nasal ridge	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0011119	HP:0000457	Depressed nasal ridge	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional
HP:0011119	HP:0000444	Convex nasal ridge	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0011119	HP:0000444	Convex nasal ridge	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0011119	HP:0003683	Large beaked nose	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0011119	HP:0000457	Depressed nasal ridge	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0011119	HP:0000444	Convex nasal ridge	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0011119	HP:0000444	Convex nasal ridge	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0011119	HP:0000444	Convex nasal ridge	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0011119	HP:0000457	Depressed nasal ridge	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0011119	HP:0000457	Depressed nasal ridge	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0011119	HP:0000457	Depressed nasal ridge	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011119	HP:0000444	Convex nasal ridge	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0011119	HP:0000444	Convex nasal ridge	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0011119	HP:0000418	Narrow nasal ridge	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0011119	HP:0000457	Depressed nasal ridge	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0011119	HP:0000444	Convex nasal ridge	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0011119	HP:0000444	Convex nasal ridge	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0011119	HP:0003683	Large beaked nose	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0011119	HP:0000444	Convex nasal ridge	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0011119	HP:0000444	Convex nasal ridge	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0011119	HP:0011120	Concave nasal ridge	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0011119	HP:0000444	Convex nasal ridge	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0011119	HP:0000457	Depressed nasal ridge	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0011119	HP:0000457	Depressed nasal ridge	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0011119	HP:0000457	Depressed nasal ridge	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0011119	HP:0000457	Depressed nasal ridge	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0011119	HP:0000444	Convex nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0011119	HP:0000418	Narrow nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0011119	HP:0000418	Narrow nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0011119	HP:0000444	Convex nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0011119	HP:0000418	Narrow nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0011119	HP:0000444	Convex nasal ridge	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011119	HP:0000444	Convex nasal ridge	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF